Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA1
Variant:p.R300C
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CTNNA1

NM_001903.5:p.R300C

Associated Papers

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL5

αE-catenin is a candidate tumor suppressor for the development of E-cadherin-expressing lobular-type breast cancer.

de Groot JS et al.

The Journal of Pathology, 2018

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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."