Varaico: Literature-Extracted Genetic Variants

Gene:LMX1A
Variant:p.Q240R
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LMX1A

NM_177398.4:p.Q240R

Associated Papers

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.

Chen R et al.

American Journal of Medical Genetics. Part A, 2026

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Lee SY et al.

Cell Reports. Medicine, 2025

40592345 (PubMed )
Supplement: mmc1.pdf

Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers.

Jo HD et al.

Biomedicines, 2022

Novel Molecular Genetic Etiology of Asymmetric Hearing Loss: Autosomal-Dominant LMX1A Variants.

Lee SY et al.

Ear and Hearing, 0

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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."