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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GCDH

Variant:p.L422_I428del7

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GCDH

NM_000159.4:p.L422_I428del7

hg38:chr19:12899486 CCCTGATCCTTGGGAGAGCTAT>C

Associated Papers

Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH.

Guo L et al.

Fundamental Research, 2022

38933374 (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."