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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPD

Variant:p.E161K

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HPD

NM_002150.3:p.E161K

hg38:chr12:121849724 C>T

Associated Papers

Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis.

Gundersen AD et al.

Bmj Case Reports, 2024

39730168 (PubMed )

Clinical presentation of 13 children with alkaptonuria.

Kujawa MJ et al.

Journal of Inherited Metabolic Disease, 2023

37395296 (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."