Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G1030A
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COL1A2

NM_000089.4:p.G1030A

Associated Papers

Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.

Xue Q et al.

Frontiers in Cell and Developmental Biology, 2024

Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.

Yang L 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, 2022

35044492 (PubMed )
Supplement: 198_2021_6263_MOESM3_ESM.xlsx › COL1A2_HGMD_data

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.

Andersson K et al.

Orphanet Journal of Rare Diseases, 2020

Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

Malmgren B et al.

Oral Diseases, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
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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."