Associated Papers
Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.
Amudhavalli SM et al.
American Journal of Medical Genetics. Part A, 2023
Additional causal SNRPE mutations in hereditary hypotrichosis simplex.
Pan C et al.
The British Journal of Dermatology, 2021
Biology of the mRNA Splicing Machinery and Its Dysregulation in Cancer Providing Therapeutic Opportunities.
Blijlevens M et al.
International Journal of Molecular Sciences, 2021
A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.
Chen T et al.
Plos Genetics, 2019
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