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Article

COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India.

American journal of medical genetics. Part A - 1 Jul 2025

Selina Agnes, Kandagaddala Madhavi, Thomas Nihal, Paul Thomas, Chapla Aaron, Danda Sumita, Madhuri Vrisha

Abstract excerpt

Heterozygous COL1A1 and COL1A2 gene variants are known to cause osteogenesis imperfecta (OI) in 90% of the patients in the Western and Japanese populations. Two previous Indian reports, a total of 49 patients, showed their proportion in the Indian population to be 44% and 71%. We studied a population of 210 children with a clinical diagnosis of OI and focused on the cohort of children with (likely) pathogenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40047057
DOI: 10.1002/ajmg.a.64023

Genes

COL1A1
COL1A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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