Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.A348T
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CDH1

NM_004360.5:p.A348T

Associated Papers

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

da Costa E Silva Carvalho S et al.

Bmc Medical Genomics, 2020

Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases.

Novak DJ et al.

Breast Cancer Research and Treatment, 2009

Mutations in MKKS cause Bardet-Biedl syndrome.

Slavotinek AM et al.

Nature Genetics, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."