Varaico: Literature-Extracted Genetic Variants

Gene:GANAB
Variant:p.R839W
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GANAB

NM_198335.4:p.R839W

Associated Papers

Novel GANAB variants associated with polycystic liver disease.

van de Laarschot LFM et al.

Orphanet Journal of Rare Diseases, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.

Porath B et al.

American Journal of Human Genetics, 2016

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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."