Varaico: Literature-Extracted Genetic Variants

Gene:LOXHD1
Variant:p.N683Splc
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LOXHD1

NM_001384474.1:p.N683Splc

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.

Quaio CRAC et al.

Frontiers in Genetics, 2022

36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_4_

Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.

Deng J et al.

Frontiers in Genetics, 2019

30833958 (PubMed )
Supplement: Table_1.XLSX › susceptibility_genes
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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."