Varaico: Literature-Extracted Genetic Variants

Gene:MTF1
Variant:p.L50P
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MTF1

NM_005955.3:p.L50P

Associated Papers

An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.

Chen HI et al.

European Journal of Human Genetics : Ejhg, 2018

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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."