Varaico: Literature-Extracted Genetic Variants

Gene:CACNG8
Variant:p.A340_G342del3
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CACNG8

NM_031895.6:p.A340_G342del3

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS24_het

Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.

Imagawa E et al.

American Journal of Medical Genetics. Part A, 2014

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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."