Associated Papers
Identification of Three Human POLH Germline Variants Defective in Complementing the UV- and Cisplatin-Sensitivity of POLH-Deficient Cells.
Yeom M et al.
International Journal of Molecular Sciences, 2023
Genetic analysis of multiple primary melanomas arising within the boundaries of congenital nevi depigmentosa.
Fuiten AM et al.
Pigment Cell & Melanoma Research, 2021
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Thiffault I et al.
Cold Spring Harbor Molecular Case Studies, 2020
32358097 (PubMed )
Supplement: supp_mcs.a003970_Supplemental_Table.xlsx › Variants_in_OMIM
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
29684080 (PubMed )
Supplement: pgen.1007352.s009.xlsx › S8_Table
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 343.163
Structure and mechanism of human DNA polymerase eta.
Biertümpfel C et al.
Nature, 2010
Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk.
Di Lucca J et al.
European Journal of Cancer (oxford, England : 1990), 2009
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