Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.A117P
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MMACHC

NM_015506.3:p.A117P

Associated Papers

Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.

Ching-López A et al.

International Journal of Molecular Sciences, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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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."