Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.G21R
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CALHM3

NM_001129742.2:p.G21R

Associated Papers

Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances.

Cen ZD et al.

Seizure, 2016

A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

Zhai Y et al.

International Journal of Medical Sciences, 2014

Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

Izumi K et al.

American Journal of Medical Genetics. Part A, 2013

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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."