Varaico: Literature-Extracted Genetic Variants

Gene:LMX1A
Variant:p.R199G
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LMX1A

NM_177398.4:p.R199G

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

Structural insights into the recognition of the A/T-rich motif in target gene promoters by the LMX1a homeobox domain.

Lin L et al.

The Febs Journal, 2024

A novel frameshift variant of LMX1A that leads to autosomal dominant non-syndromic sensorineural hearing loss: functional characterization of the C-terminal domain in LMX1A.

Xiao M et al.

Human Molecular Genetics, 2023

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

Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss.

Oziębło D et al.

Human Genetics, 2022

Novel genotype-phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss.

Lee SY et al.

Human Mutation, 2020

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."