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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HGD

Variant:p.R145Splc

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HGD

NM_000187.4:p.R145Splc

hg38:chr3:120650758 G>A

Associated Papers

Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.

Usher JL et al.

Jimd Reports, 2015

25681086 (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."