Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.G758C
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COL1A1

NM_000088.4:p.G758C

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_MOESM2_ESM.xlsx › COL1A1_HGMD_data

Evolutionary Genetic Signatures of Selection on Bone-Related Variation within Human and Chimpanzee Populations.

Stover DA et al.

Genes, 2022

35205228 (PubMed )
Supplement: genes-13-00183-s001.zip › Stover_et_al_GENES_COL1A1_Supp_Tables_S1-S18_final.xlsx › Table_S2._DAMs
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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."