Varaico: Literature-Extracted Genetic Variants

Gene:LARS2
Variant:p.Q121R
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LARS2

NM_015340.4:p.Q121R

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS03_het

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.

Neyroud AS et al.

European Journal of Human Genetics : Ejhg, 2023

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