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Publication Date2019-08
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
Shashi V.; Geist J.; Lee Y., et al
HUMAN MUTATION, v.40, no.8, pp.1115 - 1126
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Publication Date2019-03
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
Chang H.R.; Cho S.Y.; Lee J.H., et al
American Journal of Human Genetics, v.104, no.3, pp.439 - 453
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Publication Date2019-06
TRAIP regulates Histone H2B monoubiquitination in DNA damage response pathways
Han Y.G.; Yun M.; Choi M., et al
ONCOLOGY REPORTS, v.41, no.6, pp.3305 - 3312