Varaico: Literature-Extracted Genetic Variants

Gene:LOXHD1
Variant:p.N519D
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LOXHD1

NM_001384474.1:p.N519D

Associated Papers

Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.

Rajput K et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2024

Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.

Ma P et al.

Molecular Genetics & Genomic Medicine, 2024

Genetic etiology of non-syndromic hearing loss in Europe.

Del Castillo I et al.

Human Genetics, 2022

Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder.

Morlet T et al.

Otolaryngology Case Reports, 2021

Targeted next-generation sequencing of deaf patients from Southwestern China.

Li Y et al.

Molecular Genetics & Genomic Medicine, 2021

The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.

Liu XW et al.

International Journal of Pediatric Otorhinolaryngology, 2020

Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.

Minami SB et al.

Auris, Nasus, Larynx, 2016

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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."