Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G844D
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COL1A2

NM_000089.4:p.G844D

Associated Papers

Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen.

Chen P et al.

Frontiers in Genetics, 2022

35154279 (PubMed )
Supplement: Table1.XLSX › 187_patients

Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.

Shi J et al.

Frontiers in Pharmacology, 2019

31680973 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

Lin HY et al.

Orphanet Journal of Rare Diseases, 2015

Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome.

Chen CP et al.

Taiwanese Journal of Obstetrics & Gynecology, 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."