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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALDH5A1

Variant:p.G147_K151delFs

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ALDH5A1

NM_001080.3:p.G147_K151delFs

hg38:chr6:24503262 GGGAAAGCCACTGAA>G

Associated Papers

Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.

Pearl PL et al.

Developmental Medicine and Child Neurology, 2015

25558043 (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."