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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HDC

Variant:p.D33V

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HDC

NM_002112.4:p.D33V

hg38:chr15:50263341 T>A

Associated Papers

Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.

Ghatge MS et al.

Biochimie, 2021

33421502 (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."