Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.L7P
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CALHM3

NM_001129742.2:p.L7P

Associated Papers

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.

Jin A et al.

Frontiers in Cell and Developmental Biology, 2022

The impact of GJA8 SNPs on susceptibility to age-related cataract.

Yu X et al.

Human Genetics, 2018

30349978 (PubMed )
Supplement: 439_2018_1945_MOESM1_ESM.docx

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

Kuehn HS et al.

Journal of Immunology (baltimore, Md. : 1950), 2011

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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."