Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A9
Variant:p.V54I
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SLC16A9

NM_194298.3:p.V54I

Associated Papers

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.

Ullah F et al.

Human Genetics, 2021

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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."