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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCKDHA

Variant:p.A285Splc

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BCKDHA

NM_000709.4:p.A285Splc

hg38:chr19:41422628 G>T

Associated Papers

Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

Dursun A et al.

Jimd Reports, 2011

23430822 (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."