Varaico: Literature-Extracted Genetic Variants

Gene:ILDR1
Variant:p.R127Splc
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ILDR1

NM_001199799.2:p.R127Splc

Associated Papers

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

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

Mehrjoo Z et al.

Journal of Genetics, 2015

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.

Babanejad M et al.

American Journal of Medical Genetics. Part A, 2012

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