Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC3
Variant:p.R346Q
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DNAJC3

NM_006260.5:p.R346Q

Associated Papers

NEK11 as a candidate high-penetrance melanoma susceptibility gene.

Christodoulou E et al.

Journal of Medical Genetics, 2020

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.

Synofzik M et al.

American Journal of Human Genetics, 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."