Varaico: Literature-Extracted Genetic Variants

Gene:ITIH1
Variant:p.E585V
Back to variants list

ITIH1

NM_002215.4:p.E585V

Associated Papers

Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract.

Chaar DL et al.

Investigative Ophthalmology & Visual Science, 2025

40801674 (PubMed )
Supplement: iovs-66-11-32_s001.pdf

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Computational and Experimental Analysis of Genetic Variants.

Prokop JW et al.

Comprehensive Physiology, 2022

A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.

Skuladottir AT et al.

Nature Communications, 2022

35332129 (PubMed )
Supplement: 41467_2022_29133_MOESM4_ESM.xlsx › Supp._Data_4

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

Host genetic variation impacts microbiome composition across human body sites.

Blekhman R et al.

Genome Biology, 2015

26374288 (PubMed )
Supplement: 13059_2015_759_MOESM2_ESM.pdf

Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.

Scott LJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction.

Ebana Y et al.

Journal of Human Genetics, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."