Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.K234_V235Splc
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POT1

NM_015450.3:p.K234_V235Splc

Associated Papers

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

Germline mutation in the TP53 gene in uveal melanoma.

Hajkova N et al.

Scientific Reports, 2018

29769598 (PubMed )
Supplement: 41598_2018_26040_MOESM2_ESM.xlsx › Supplementary_Table_S1

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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