Varaico: Literature-Extracted Genetic Variants

Gene:COL4A2
Variant:p.P718S
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COL4A2

NM_001846.4:p.P718S

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

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

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s007.xlsx › Sheet1

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

Rødahl E et al.

American Journal of Ophthalmology, 2013

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."