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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Bibliographische Detailangaben
Veröffentlicht in:Hum Mutat
Hauptverfasser: Chen, Hannah Jinlian, Romigh, Todd, Sesock, Kaitlin, Eng, Charis
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2017
Schlagworte:
Brief Reports
Online Zugang: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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