Varaico: Literature-Extracted Genetic Variants

Gene:HARS2
Variant:p.G276delins
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HARS2

NM_012208.4:p.G276delins

Associated Papers

Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.

Souissi A et al.

Genetic Testing and Molecular Biomarkers, 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."