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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCKDHA

Variant:p.H37insFs

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BCKDHA

NM_000709.4:p.H37insFs

hg38:chr19:41410638 A>AAC

Associated Papers

Genetic background and clinical characteristics of infantile hyperammonemia.

Li M et al.

Translational Pediatrics, 2023

37305718 (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."