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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTR

Variant:p.T149delFs

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MTR

NM_000254.3:p.T149delFs

hg38:chr1:236810537 GAC>G

Associated Papers

Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.

Wang SJ et al.

Metabolic Brain Disease, 2018

29374341 (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."