Varaico: Literature-Extracted Genetic Variants

Gene:MTR
Variant:p.C432Y
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MTR

NM_000254.3:p.C432Y

Associated Papers

Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.

Liu Y et al.

Journal of Human Genetics, 2019

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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."