Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.L116del1
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CALHM3

NM_001129742.2:p.L116del1

Associated Papers

Disorders of synaptic vesicle fusion machinery.

Melland H et al.

Journal of Neurochemistry, 2021

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

Cadieux-Dion M et al.

Clinical Genetics, 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."