Varaico: Literature-Extracted Genetic Variants

Gene:ITIH3
Variant:p.Q315K
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ITIH3

NM_002217.4:p.Q315K

Associated Papers

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

Coding and regulatory variants are associated with serum protein levels and disease.

Emilsson V et al.

Nature Communications, 2022

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

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Justice AE et al.

Nature Genetics, 2019

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

Surendran P et al.

Nature Genetics, 2016

27618447 (PubMed )
Supplement: NIHMS69533-supplement-Supplementary_Tables.xlsx › Supplementary_Table_05

Biological insights from 108 schizophrenia-associated genetic loci.

Unknown Author

Nature, 2014

25056061 (PubMed )
Supplement: NIHMS59304-supplement-Supplementary_Table_4.xlsx › coding_variants

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

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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."