Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.V243delFs
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CALHM3

NM_001129742.2:p.V243delFs

Associated Papers

CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses.

Shiro Y et al.

Biomedical Research (tokyo, Japan), 2021

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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."