Varaico: Literature-Extracted Genetic Variants

Gene:LMX1A
Variant:p.E126K
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LMX1A

NM_177398.4:p.E126K

Associated Papers

Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.

Kim JA et al.

Experimental & Molecular Medicine, 2025

40164689 (PubMed )
Supplement: 12276_2025_1428_MOESM1_ESM.pdf

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

Wesdorp M et al.

Human Genetics, 2018

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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."