Varaico: Literature-Extracted Genetic Variants

Gene:BTC
Variant:p.L124M
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BTC

NM_001729.4:p.L124M

Associated Papers

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.

Moll M et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2021

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Skowron MA et al.

Scientific Reports, 2019

31597922 (PubMed )
Supplement: 41598_2019_50891_MOESM11_ESM.xlsx › Unique_in_J82-LTT

Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects.

Elbein SC et al.

Bmc Medical Genetics, 2006

Association of a polymorphism in the betacellulin gene with type 1 diabetes mellitus in two populations.

Silver KD et al.

Journal of Molecular Medicine (berlin, Germany), 2006

Molecular scanning of the betacellulin gene for mutations in type 2 diabetic patients.

Nakagawa T et al.

Diabetes Research and Clinical Practice, 2005

The exon 1 Cys7Gly polymorphism within the betacellulin gene is associated with type 2 diabetes in African Americans.

Silver K et al.

Diabetes, 2005

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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."