Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.E1015K
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COL1A1

NM_000088.4:p.E1015K

Associated Papers

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

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.

Swinnen FK et al.

Orphanet Journal of Rare Diseases, 2011

22206639 (PubMed )
Supplement: 1750-1172-6-88-S1.PDF

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.

van Dijk FS et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 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."