Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Copier JS, Bootsma M, Ng CA, Wilde AAM, Bertels RA, Bikker H, Christiaans I, van der Crabben SN, Hol JA, Koopmann TT, Knijnenburg J, Lommerse AAJ, van der Smagt JJ, Bezzina CR, Vandenberg JI, Verkerk AO, Barge-Schaapveld DQCM, Lodder EM.
Copier JS, et al. Among authors: bikker h.
Hum Mol Genet. 2023 Mar 20;32(7):1072-1082. doi: 10.1093/hmg/ddac261.
Hum Mol Genet. 2023.
PMID: 36269083
Free PMC article.