Associated Papers
MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families.
Archer J et al.
Clinical Genetics, 2026
A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.
Chen Q et al.
Bmc Medical Genomics, 2025
41163060 (PubMed )
Supplement: 12920_2025_2248_MOESM1_ESM.xlsx › Sheet1
Novel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B.
Zhou C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss.
Cui L et al.
Jci Insight, 2020
Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study.
Jeong S et al.
Scientific Reports, 2020
32770099 (PubMed )
Supplement: 41598_2020_70310_MOESM1_ESM.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1013.391
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