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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMAB

Variant:p.R190insFs

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MMAB

NM_052845.4:p.R190insFs

hg38:chr12:109561056 G>GA

Associated Papers

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

He R et al.

Neurology, 2020

32943488 (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."