Associated Papers
Identification of biallelic mutations in MCM3AP and comprehensive literature analysis.
Liu C et al.
Frontiers in Genetics, 2024
Longitudinal Analyses of Mutational Subclonal Architecture and Tumor Subtypes in Recurrent Bladder Cancer.
Ryu D et al.
International Journal of Molecular Sciences, 2023
37176124 (PubMed )
Supplement: ijms-24-08418-s001.zip › Supplementary_Table_S2.xlsx › MUT_P2
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Woldegebriel R et al.
Human Molecular Genetics, 2020
32202298 (PubMed )
Supplement: EMS86591-supplement-Table_S1.xlsx › Sheet1
Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.
Dong HL et al.
Journal of the Peripheral Nervous System : Jpns, 2020
A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.
Kennerson ML et al.
Brain : a Journal of Neurology, 2018
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
Karakaya M et al.
Brain : a Journal of Neurology, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Ylikallio E et al.
Brain : a Journal of Neurology, 2017
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