Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2
Variant:p.D72G
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TBC1D2

NM_001267571.2:p.D72G

Associated Papers

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Audo I et al.

American Journal of Human Genetics, 2009

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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."