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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HGD

Variant:p.V316I

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HGD

NM_000187.4:p.V316I

hg38:chr3:120638515 C>T

Associated Papers

Presentation of 14 alkaptonuria patients from Turkey.

Akbaba AI et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

31927521 (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."