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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMAB

Variant:p.S174fs

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MMAB

NM_052845.4:p.S174fs

hg38:chr12:109561104 CGA>N

Associated Papers

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type.

Richard E et al.

Stem Cell Research, 2018

29660608 (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."