Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.R763H
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COL1A1

NM_000088.4:p.R763H

Associated Papers

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc3.xlsx › BrM137

Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.

Wang T et al.

Computational and Structural Biotechnology Journal, 2023

38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs

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

Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey.

Demir S et al.

Genetic Testing and Molecular Biomarkers, 2021

Genetic and epigenetic profiling indicates the proximal tubule origin of renal cancers in end-stage renal disease.

Ishihara H et al.

Cancer Science, 2020

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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."