Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.A1075T
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COL1A1

NM_000088.4:p.A1075T

Associated Papers

Evolutionary Genetic Signatures of Selection on Bone-Related Variation within Human and Chimpanzee Populations.

Stover DA et al.

Genes, 2022

35205228 (PubMed )
Supplement: genes-13-00183-s001.zip › Stover_et_al_GENES_COL1A1_Supp_Tables_S1-S18_final.xlsx › Table_S18._COL1A1_resequencing

Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.

Zhytnik L et al.

Clinical and Translational Science, 2020

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.

Zhytnik L et al.

Human Genomics, 2017

[Studies of type I collagen (COL1A1) alpha1 chain in patients with osteogenesis imperfecta].

Nadyrshina DD et al.

Genetika, 2012

A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.

Fuccio A et al.

The Journal of Molecular Diagnostics : Jmd, 2011

No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women.

Hu WW et al.

Acta Pharmacologica Sinica, 2011

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

Bodian DL et al.

Human Molecular Genetics, 2009

Natural variation in four human collagen genes across an ethnically diverse population.

Chan TF et al.

Genomics, 2008

Tests of linkage and/or association of TGF-beta1 and COL1A1 genes with bone mass.

Long JR et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2005

Type V osteogenesis imperfecta: a new form of brittle bone disease.

Glorieux FH et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2000

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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."