A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition

Papillary thyroid carcinoma (PTC) displays strong but so far largely uncharacterized heritability. Here we studied genetic predisposition in a family with six affected individuals. We genotyped all available family members and conducted whole exome sequencing of blood DNA from two affected individua...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Tomsic, Jerneja, He, Huiling, Akagi, Keiko, Liyanarachchi, Sandya, Pan, Qun, Bertani, Blake, Nagy, Rebecca, Symer, David E., Blencowe, Benjamin J., Chapelle, Albert de la
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4488885/
https://ncbi.nlm.nih.gov/pubmed/26135620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep10566
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