Associated Papers
Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations.
Perdomo-Ramirez A et al.
Bmc Medical Genetics, 2019
Primary constitutional MLH1 epimutations: a focal epigenetic event.
Dámaso E et al.
British Journal of Cancer, 2018
Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation.
Morak M et al.
Journal of Medical Genetics, 2018
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