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
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| Datum: | 2020 |
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| Hauptverfasser: | , , , , , , , |
| Format: | Artikel |
| Sprache: | English |
| Veröffentlicht: |
2020
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| Schriftenreihe: | Cytology and genetics |
| Online Zugang: | http://jnas.nbuv.gov.ua/article/UJRN-0001166407 |
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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 |
| institution |
Library portal of National Academy of Sciences of Ukraine | LibNAS |
| collection |
Open-Science |
| language |
English |
| series |
Cytology and genetics |
| 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 |
| format |
Article |
| 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 |
| 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_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_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_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 |
| publishDate |
2020 |
| url |
http://jnas.nbuv.gov.ua/article/UJRN-0001166407 |
| work_keys_str_mv |
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| first_indexed |
2025-07-17T12:29:35Z |
| last_indexed |
2025-07-17T12:29:35Z |
| _version_ |
1850412282673102848 |