Varaico: Literature-Extracted Genetic Variants

Gene:COL12A1
Variant:p.G3058S
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COL12A1

NM_004370.6:p.G3058S

Associated Papers

Examining patient-specific responses to PARP inhibitors in a novel, human induced pluripotent stem cell-based model of breast cancer.

Weddle CJ et al.

Npj Precision Oncology, 2025

40000798 (PubMed )
Supplement: 41698_2025_837_MOESM3_ESM.xlsx › BC1

The Association of Genetic Variants Within the Type XII Collagen and Tenascin C Genes with Knee Joint Laxity Measurements.

Beckley S et al.

Genes, 2025

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

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

Association of COL12A1 rs970547 Polymorphism with Elite Athlete Status.

Ginevičienė V et al.

Biomedicines, 2022

A whole genome sequencing approach to anterior cruciate ligament rupture-a twin study in two unrelated families.

Feldmann D et al.

Plos One, 2022

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Fu W et al.

Bmc Medical Genomics, 2021

34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data

COL12A1 Single Nucleotide Polymorphisms rs240736 and rs970547 Are Not Associated with Temporomandibular Joint Disc Displacement without Reduction.

Dalewski B et al.

Genes, 2021

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease.

Prud'hon S et al.

Frontiers in Neurology, 2020

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

Collagen gene variants previously associated with anterior cruciate ligament injury risk are also associated with joint laxity.

Bell RD et al.

Sports Health, 2012

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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."