Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.K361Splc
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GCDH

NM_000159.4:p.K361Splc

Associated Papers

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.

Fraidakis MJ et al.

Jimd Reports, 2015

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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."