Varaico: Literature-Extracted Genetic Variants

Gene:COL4A2
Variant:p.G683A
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COL4A2

NM_001846.4:p.G683A

Associated Papers

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi E et al.

Genes, 2023

38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › SupplementaryTable2.xlsx › Foglio1

Genetic polymorphisms in collagen-related genes are associated with pelvic organ prolapse.

Li L et al.

Menopause (new York, N.y.), 2020

31663982 (PubMed )
Supplement: menop-27-223-s001.xlsx › Sheet1

Novel heterozygous NOTCH3 pathogenic variant found in two Chinese patients with CADASIL.

Li S et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2017

Single Nucleotide Variant rs2232710 in the Protein Z-Dependent Protease Inhibitor (ZPI, SERPINA10) Gene Is Not Associated with Deep Vein Thrombosis.

Gorski MM et al.

Plos One, 2016

Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study.

Adams JN et al.

Cardiovascular Diabetology, 2014

24725463 (PubMed )
Supplement: 1475-2840-13-77-S1.xls › Sheet1

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.

Parcerisas A et al.

Journal of Alzheimer's Disease : Jad, 2014

25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P8H

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

Jeanne M et al.

American Journal of Human Genetics, 2012

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

Karolak JA et al.

Molecular Vision, 2011

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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."