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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HMGCL

Variant:p.Q250_M251Splc

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HMGCL

NM_000191.3:p.Q250_M251Splc

hg38:chr1:23808134 C>T

Associated Papers

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

Menao S et al.

Human Mutation, 2009

19177531 (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."