Varaico: Literature-Extracted Genetic Variants

Gene:LMX1A
Variant:p.R208*
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LMX1A

NM_177398.4:p.R208*

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

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

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

Wesdorp M et al.

Human Genetics, 2018

29754270 (PubMed )
Supplement: 439_2018_1880_MOESM1_ESM.docx

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

Clough MV et al.

Human Mutation, 1999

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

Vollrath D et al.

Human Molecular Genetics, 1998

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."