Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.R153G
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ATP2C1

NM_001378687.1:p.R153G

Associated Papers

A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.

Fan Q et al.

Bmc Medical Genetics, 2019

30894134 (PubMed )
Supplement: 12881_2019_782_MOESM1_ESM.xlsx › Sheet2

Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease.

Ohtsuka T et al.

Dermatology (basel, Switzerland), 2006

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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."