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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALG5

Variant:p.Q235delFs

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ALG5

NM_013338.5:p.Q235delFs

hg38:chr13:36965643 CTG>C

Associated Papers

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

Lemoine H et al.

American Journal of Human Genetics, 2022

35896117 (PubMed )

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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."