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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mutat
Prif Awduron: Chen, Hannah Jinlian, Romigh, Todd, Sesock, Kaitlin, Eng, Charis
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2017
Pynciau:
Mynediad Ar-lein: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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