Varaico: Literature-Extracted Genetic Variants

Gene:LARS2
Variant:p.I360T
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LARS2

NM_015340.4:p.I360T

Associated Papers

LARS2-Related Perrault Syndrome in Siblings With 46,XY Differences of Sex Development.

Adam AP et al.

American Journal of Medical Genetics. Part A, 2025

Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.

Lu M et al.

Neurogenetics, 2025

[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

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