Varaico: Literature-Extracted Genetic Variants

Gene:TFAM
Variant:p.A47_P50del0
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TFAM

NM_003201.3:p.A47_P50del0

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."