Varaico: Literature-Extracted Genetic Variants

Gene:ISCA2
Variant:p.L30P
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ISCA2

NM_194279.4:p.L30P

Associated Papers

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.

Hartman TG et al.

Neurogenetics, 2020

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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."