Varaico: Literature-Extracted Genetic Variants

Gene:ISCA2
Variant:p.R24G
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ISCA2

NM_194279.4:p.R24G

Associated Papers

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.

Al-Hassnan Z et al.

Frontiers in Psychiatry, 2024

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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."