Varaico: Literature-Extracted Genetic Variants

Gene:HROB
Variant:p.T126P
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HROB

NM_001171251.3:p.T126P

Associated Papers

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.

Styrkarsdottir U et al.

Nature Communications, 2019

31053729 (PubMed )
Supplement: 41467_2019_9860_MOESM1_ESM.pdf

Why SNP rs227584 is associated with human BMD and fracture risk? A molecular and cellular study in bone cells.

Zhou X et al.

Journal of Cellular and Molecular Medicine, 2019

An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Zhao J et al.

Genome Medicine, 2018

29378629 (PubMed )
Supplement: 13073_2018_513_MOESM4_ESM.xlsx › Sheet1

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Zhang G et al.

Human Mutation, 2010

21064102 (PubMed )
Supplement: supplement_1.pdf

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.

Rivadeneira F et al.

Nature Genetics, 2009

New sequence variants associated with bone mineral density.

Styrkarsdottir U et al.

Nature Genetics, 2009

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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."