Varaico: Literature-Extracted Genetic Variants

Gene:TINF2
Variant:p.F288L
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TINF2

NM_001099274.3:p.F288L

Associated Papers

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

Kocheva SA et al.

Balkan Journal of Medical Genetics : Bjmg, 2021

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

Vulliamy T et al.

Clinical Genetics, 2012

Telomere dysfunction in human diseases: the long and short of it!

Carroll KA et al.

International Journal of Clinical and Experimental Pathology, 2009

TINF2 mutations in children with severe aplastic anemia.

Du HY et al.

Pediatric Blood & Cancer, 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."