Varaico: Literature-Extracted Genetic Variants

Gene:TINF2
Variant:p.P241S
Back to variants list

TINF2

NM_001099274.3:p.P241S

Associated Papers

Did variants in inborn errors of immunity genes contribute to the extinction of Neanderthals?

Zhou Z et al.

Asian Pacific Journal of Allergy and Immunology, 2022

Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.

Amir M et al.

Cells, 2020

Telomerase Variants in Patients with Cirrhosis Awaiting Liver Transplantation.

Chiu V et al.

Hepatology (baltimore, Md.), 2019

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP et al.

International Journal of Cancer, 2019

30414346 (PubMed )
Supplement: IJC-144-2453-s001.doc

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

Vulliamy T et al.

Clinical Genetics, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."