Varaico: Literature-Extracted Genetic Variants

Gene:HMCN1
Variant:p.Q1118H
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HMCN1

NM_031935.3:p.Q1118H

Associated Papers

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Hitti-Malin RJ et al.

Human Mutation, 2022

36259723 (PubMed )
Supplement: HUMU-43-2234-s006.xlsx › Overview__Class_3-5

The genetic landscape of 5T models for multiple myeloma.

Maes K et al.

Scientific Reports, 2018

30301958 (PubMed )
Supplement: 41598_2018_33396_MOESM2_ESM.xlsx › supplementary_table_7

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
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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."