Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.P465R
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GBA2

NM_020944.3:p.P465R

Associated Papers

Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.

Mutai H et al.

Plos Genetics, 2020

32294086 (PubMed )
Supplement: pgen.1008643.s015.pdf
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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."