Varaico: Literature-Extracted Genetic Variants

Gene:ILDR1
Variant:p.Y143delFs
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ILDR1

NM_001199799.2:p.Y143delFs

Associated Papers

Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.

Wang X et al.

Scientific Reports, 2025

40595116 (PubMed )
Supplement: 41598_2025_6744_MOESM1_ESM.xls › Supplementary_Table_S2

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

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