Resolving pathogenicity classification for the CDH1 c.[715G>A] (p.Gly239Arg) Variant

Hereditary Diffuse Gastric Cancer (HDGC) syndrome is associated with CDH1 germline likely pathogenic/pathogenic variants. Carriers of CDH1 germline likely pathogenic/pathogenic variants are predisposed to diffuse gastric cancer and lobular breast cancer. This study aims to classify the CDH1 c.[715G&...

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Pubblicato in:Eur J Hum Genet
Autori principali: Yelskaya, Zarina, Arnold, Angela G., Marcell, Vanessa J., Tang, Laura H., Salo-Mullen, Erin E., Strong, Vivian E., Stadler, Zsofia K., Zhang, Liying
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer International Publishing 2021
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8298625/
https://ncbi.nlm.nih.gov/pubmed/33619332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-021-00825-w
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