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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALG8

Variant:p.E58_A59Splc

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ALG8

NM_024079.5:p.E58_A59Splc

hg38:chr11:78124216 T>C

Associated Papers

PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Yu CC et al.

Npj Genomic Medicine, 2022

35778421 (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."