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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALNS

Variant:p.R386Splc

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GALNS

NM_001323544.2:p.R386Splc

hg38:chr16:88824872 G>C

Associated Papers

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.

Lin SJ et al.

Genome Medicine, 2023

38031187 (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."