Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A4
Variant:p.A114T
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SLC25A4

NM_001151.4:p.A114T

Associated Papers

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.

Zhu F et al.

American Journal of Human Genetics, 2016

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K et al.

American Journal of Human Genetics, 2016

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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."