Varaico: Literature-Extracted Genetic Variants

Gene:ILDR1
Variant:p.V102E
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ILDR1

NM_001199799.2:p.V102E

Associated Papers

Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family.

An J et al.

Frontiers in Genetics, 2019

A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.

Wang X et al.

Neural Plasticity, 2018

Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature.

Talebi F et al.

International Journal of Pediatric Otorhinolaryngology, 2017

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.

Tlili A et al.

Plos One, 2017

Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.

Mehrjoo Z et al.

Journal of Genetics, 2015

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