Varaico: Literature-Extracted Genetic Variants

Gene:LOXHD1
Variant:p.R685H
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LOXHD1

NM_001384474.1:p.R685H

Associated Papers

Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.

Nieminen TT et al.

Bmc Cancer, 2025

41023686 (PubMed )
Supplement: 12885_2025_14865_MOESM2_ESM.xlsx › CRC_II.4_FCCX-W

Clinical Exome Sequencing Identifies, Two Homozygous LOXHD1 Variants in Two Inbred Families With Pre-Lingual Hearing Loss From South India.

Krishnamoorthy M et al.

Annals of Human Genetics, 2025

Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss.

Wang WQ et al.

Frontiers in Genetics, 2022

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.

Chakrabarty S et al.

Journal of Neurology, 2021

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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."