Publications:

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: CDH1: L583I

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 2

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Genomic profile analysis of diffuse-type gastric cancers.

Genome Biology

Lee, Yeon-Su YS; Cho, Yun Sung YS; Lee, Geon Kook GK; Lee, Sunghoon S; Kim, Young-Woo YW; Jho, Sungwoong S; Kim, Hak-Min HM; Hong, Seung-Hyun SH; Hwang, Jung-Ah JA; Kim, Sook-young SY; Hong, Dongwan D; Choi, Il Ju IJ; Kim, Byung Chul BC; Kim, Byoung-Chul BC; Kim, Chul Hong CH; Choi, Hansol H; Kim, Youngju Y; Kim, Kyung Wook KW; Kong, Gu G; Kim, Hyung Lae HL; Bhak, Jong J; Lee, Seung Hoon SH; Lee, Jin Soo JS

Publication Date: 2014-04-01

Variant appearance in text: CDH1: L583I

PubMed Link: 24690483

Variant Present in the following documents:

• gb-2014-15-4-r55-S1.pdf

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E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer.

Plos One

Simões-Correia, Joana J; Figueiredo, Joana J; Lopes, Rui R; Stricher, François F; Oliveira, Carla C; Serrano, Luis L; Seruca, Raquel R

Publication Date: 2012

Variant appearance in text: CDH1: L583I

PubMed Link: 22470475

Variant Present in the following documents:

• Main text
• pone.0033783.pdf

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