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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMAB

Variant:p.Q118del1

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MMAB

NM_052845.4:p.Q118del1

hg38:chr12:109561846 ACTG>A

Associated Papers

Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.

Maryami F et al.

Hereditas, 2023

37248539 (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."