Varaico: Literature-Extracted Genetic Variants

Gene:HMCN1
Variant:p.R5205H
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HMCN1

NM_031935.3:p.R5205H

Associated Papers

Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.

Wąsowska A et al.

Genes, 2023

37761846 (PubMed )
Supplement: genes-14-01707-s001.zip › genes-2482546-supplementary › Supplementary_Table_S1.xlsx › Rare_variants

Clonal germinal center B cells function as a niche for T-cell lymphoma.

Fujisawa M et al.

Blood, 2022

35921527 (PubMed )
Supplement: BLOOD_BLD-2022-015451-mmc1.xlsx › supplemental_Table_6

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.

Wang Y et al.

Frontiers in Cell and Developmental Biology, 2020

33251213 (PubMed )
Supplement: Data_Sheet_1.XLSX › S5.Clinical_SNVs

A Vietnamese human genetic variation database.

Le VS et al.

Human Mutation, 2019

Genome-wide linkage and exome analyses identify variants of HMCN1 for splenic epidermoid cyst.

Omer WH et al.

Bmc Medical Genetics, 2014

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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."