Varaico: Literature-Extracted Genetic Variants

Gene:TERF2IP
Variant:p.K324E
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TERF2IP

NM_018975.4:p.K324E

Associated Papers

Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.

Goldstein AM et al.

Jaad International, 2023

Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population.

Malińska K et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2020

The Genetic Germline Background of Single and Multiple Primary Melanomas.

De Summa S et al.

Frontiers in Molecular Biosciences, 2020

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs

Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita.

Savage SA et al.

Journal of Medical Genetics, 2011

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