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Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome
Germline mutations in the tumor‐suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome, and autism. Evidence‐based classification of PTEN variants as either deleterious or benign is urgently needed for accurate molecular diagnosis and gene‐informed gene...
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| Publicado no: | Hum Mutat |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5599331/ https://ncbi.nlm.nih.gov/pubmed/28677221 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23288 |
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