Associated Papers
Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families.
Zamani GY et al.
Genes, 2022
Large deletions in immunoglobulin genes are associated with a sustained absence of DNA Polymerase η.
Lerner LK et al.
Scientific Reports, 2020
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
Opletalova K et al.
Human Mutation, 2014
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