Varaico: Literature-Extracted Genetic Variants

Gene:MMADHC
Variant:p.S190insFs
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MMADHC

NM_015702.3:p.S190insFs

Associated Papers

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.

He R et al.

Neurology, 2020

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.

Weisfeld-Adams JD et al.

Molecular Genetics and Metabolism, 2010

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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."