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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCKDK

Variant:p.H206P

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BCKDK

NM_005881.4:p.H206P

hg38:chr16:31110474 A>C

Associated Papers

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

Tangeraas T et al.

Brain : a Journal of Neurology, 2023

36729635 (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."