Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.P59A
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CALHM3

NM_001129742.2:p.P59A

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

KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.

Hu L et al.

Molecular Medicine Reports, 2020

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

Identification of N-terminal residues on P-selectin glycoprotein ligand-1 required for binding to P-selectin.

Liu W et al.

The Journal of Biological Chemistry, 1998

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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."