Varaico: Literature-Extracted Genetic Variants

Gene:SVEP1
Variant:p.V507I
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SVEP1

NM_153366.4:p.V507I

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

Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.

Coassin S et al.

Circulation. Genomic and Precision Medicine, 2022

35133173 (PubMed )
Supplement: hcg-15-e003489-s001.pdf

RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias.

Kanwal A et al.

Journal of Psychiatry & Neuroscience : Jpn, 0

36318984 (PubMed )
Supplement: JPN-220070-at-1.pdf
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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."