Novel mutation s.7348C>T in NF1 gene identified by whole¬exome sequencing in patient with overlapping clinical symptoms of neurofibromatosis type 1 and bannayan¬riley¬ruvalcaba syndrome
Збережено в:
| Дата: | 2020 |
|---|---|
| Автори: | , , , , , , , |
| Формат: | Стаття |
| Мова: | Англійська |
| Опубліковано: |
2020
|
| Назва видання: | Cytology and genetics |
| Онлайн доступ: | http://jnas.nbuv.gov.ua/article/UJRN-0001166407 |
| Теги: |
Додати тег
Немає тегів, Будьте першим, хто поставить тег для цього запису!
|
| Назва журналу: | Library portal of National Academy of Sciences of Ukraine | LibNAS |
Репозитарії
Library portal of National Academy of Sciences of Ukraine | LibNAS| _version_ | 1859499659276320768 |
|---|---|
| author | E. S. Rahmani H. Azarpara M. F. Abazari M. R. Mohajeri M. Nasimi R. Ghorbani A. Azizpour H. Rahimi |
| author_facet | E. S. Rahmani H. Azarpara M. F. Abazari M. R. Mohajeri M. Nasimi R. Ghorbani A. Azizpour H. Rahimi |
| author_sort | E. S. Rahmani |
| collection | Open-Science |
| first_indexed | 2025-07-17T12:29:35Z |
| format | Article |
| id | open-sciencenbuvgovua-13333 |
| institution | Library portal of National Academy of Sciences of Ukraine | LibNAS |
| language | English |
| last_indexed | 2025-07-17T12:29:35Z |
| publishDate | 2020 |
| record_format | dspace |
| series | Cytology and genetics |
| spelling | open-sciencenbuvgovua-133332024-02-25T17:59:29Z Novel mutation s.7348C>T in NF1 gene identified by whole¬exome sequencing in patient with overlapping clinical symptoms of neurofibromatosis type 1 and bannayan¬riley¬ruvalcaba syndrome E. S. Rahmani H. Azarpara M. F. Abazari M. R. Mohajeri M. Nasimi R. Ghorbani A. Azizpour H. Rahimi 0564-3783 2020 en Cytology and genetics http://jnas.nbuv.gov.ua/article/UJRN-0001166407 Article |
| spellingShingle | Cytology and genetics E. S. Rahmani H. Azarpara M. F. Abazari M. R. Mohajeri M. Nasimi R. Ghorbani A. Azizpour H. Rahimi Novel mutation s.7348C>T in NF1 gene identified by whole¬exome sequencing in patient with overlapping clinical symptoms of neurofibromatosis type 1 and bannayan¬riley¬ruvalcaba syndrome |
| title | Novel mutation s.7348C>T in NF1 gene identified by whole¬exome sequencing in patient with overlapping clinical symptoms of neurofibromatosis type 1 and bannayan¬riley¬ruvalcaba syndrome |
| title_full | Novel mutation s.7348C>T in NF1 gene identified by whole¬exome sequencing in patient with overlapping clinical symptoms of neurofibromatosis type 1 and bannayan¬riley¬ruvalcaba syndrome |
| title_fullStr | Novel mutation s.7348C>T in NF1 gene identified by whole¬exome sequencing in patient with overlapping clinical symptoms of neurofibromatosis type 1 and bannayan¬riley¬ruvalcaba syndrome |
| title_full_unstemmed | Novel mutation s.7348C>T in NF1 gene identified by whole¬exome sequencing in patient with overlapping clinical symptoms of neurofibromatosis type 1 and bannayan¬riley¬ruvalcaba syndrome |
| title_short | Novel mutation s.7348C>T in NF1 gene identified by whole¬exome sequencing in patient with overlapping clinical symptoms of neurofibromatosis type 1 and bannayan¬riley¬ruvalcaba syndrome |
| title_sort | novel mutation s.7348c>t in nf1 gene identified by whole¬exome sequencing in patient with overlapping clinical symptoms of neurofibromatosis type 1 and bannayan¬riley¬ruvalcaba syndrome |
| url | http://jnas.nbuv.gov.ua/article/UJRN-0001166407 |
| work_keys_str_mv | AT esrahmani novelmutations7348campgttinnf1geneidentifiedbywholeexomesequencinginpatientwithoverlappingclinicalsymptomsofneurofibromatosistype1andbannayanrileyruvalcabasyndrome AT hazarpara novelmutations7348campgttinnf1geneidentifiedbywholeexomesequencinginpatientwithoverlappingclinicalsymptomsofneurofibromatosistype1andbannayanrileyruvalcabasyndrome AT mfabazari novelmutations7348campgttinnf1geneidentifiedbywholeexomesequencinginpatientwithoverlappingclinicalsymptomsofneurofibromatosistype1andbannayanrileyruvalcabasyndrome AT mrmohajeri novelmutations7348campgttinnf1geneidentifiedbywholeexomesequencinginpatientwithoverlappingclinicalsymptomsofneurofibromatosistype1andbannayanrileyruvalcabasyndrome AT mnasimi novelmutations7348campgttinnf1geneidentifiedbywholeexomesequencinginpatientwithoverlappingclinicalsymptomsofneurofibromatosistype1andbannayanrileyruvalcabasyndrome AT rghorbani novelmutations7348campgttinnf1geneidentifiedbywholeexomesequencinginpatientwithoverlappingclinicalsymptomsofneurofibromatosistype1andbannayanrileyruvalcabasyndrome AT aazizpour novelmutations7348campgttinnf1geneidentifiedbywholeexomesequencinginpatientwithoverlappingclinicalsymptomsofneurofibromatosistype1andbannayanrileyruvalcabasyndrome AT hrahimi novelmutations7348campgttinnf1geneidentifiedbywholeexomesequencinginpatientwithoverlappingclinicalsymptomsofneurofibromatosistype1andbannayanrileyruvalcabasyndrome |