Varaico: Literature-Extracted Genetic Variants

Gene:TINF2
Variant:p.K280delFs
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TINF2

NM_001099274.3:p.K280delFs

Associated Papers

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.

Sande CM et al.

The Journal of Clinical Investigation, 2025

40179146 (PubMed )
Supplement: jci-135-181659-s295.pdf

TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.

Jensen MR et al.

Hgg Advances, 2023

37646013 (PubMed )
Supplement: mmc1.pdf

de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.

Kocheva SA et al.

Balkan Journal of Medical Genetics : Bjmg, 2021

Revesz syndrome revisited.

Karremann M et al.

Orphanet Journal of Rare Diseases, 2020

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.

Sasa GS et al.

Clinical Genetics, 2012

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