Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.A855_G856Splc
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COL1A2

NM_000089.4:p.A855_G856Splc

Associated Papers

The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype.

He M et al.

Frontiers in Genetics, 2021

Clinical value of genetic analysis in prenatal diagnosis of short femur.

Liu J et al.

Molecular Genetics & Genomic Medicine, 2019

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

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

Mrosk J et al.

Bone, 2018

Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

Lee KS et al.

Human Mutation, 2006

Osteogenesis imperfecta in Brazilian patients.

Trancozo M et al.

Genetics and Molecular Biology, 0

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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."