Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.A298V
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GCDH

NM_000159.4:p.A298V

Associated Papers

Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.

Nair LS et al.

Pediatric Neurology, 2024

Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome.

Arai E et al.

International Journal of Cancer, 2014

24504440 (PubMed )
Supplement: ijc0135-1330-sd8.pdf

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.

Goodman SI et al.

Human Mutation, 1998

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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."