Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.R304H
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COL1A1

NM_000088.4:p.R304H

Associated Papers

A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle.

Corbeau J et al.

Genetics, Selection, Evolution : Gse, 2024

38773368 (PubMed )
Supplement: 12711_2024_909_MOESM4_ESM.xlsx › S2

Integrated analyses of murine breast cancer models reveal critical parallels with human disease.

Rennhack JP et al.

Nature Communications, 2019

31332182 (PubMed )
Supplement: 41467_2019_11236_MOESM6_ESM.xlsx › Sheet1
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