Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.T1069_G1070Splc
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COL1A1

NM_000088.4:p.T1069_G1070Splc

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

COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report.

Dirani M et al.

Frontiers in Surgery, 2022

36338653 (PubMed )
Supplement: Table1.xlsx › Sup_tab1

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

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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."