Varaico: Literature-Extracted Genetic Variants

Gene:HARS2
Variant:p.R425W
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HARS2

NM_012208.4:p.R425W

Associated Papers

[Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes].

Lei YB et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2023

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.

Spedicati B et al.

Biomedicines, 2023

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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."