EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

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Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors.Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.Using Zebrafish to Test the Genetic Basis of Human Craniofacial Diseases.

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EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

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2015 nî lūn-bûn

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EFTUD2 deficiency in vertebrat ...... neration of a zebrafish model.

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P2860

Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa

An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2.

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis

Clinical application of exome sequencing in undiagnosed genetic conditions

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Facial dysostoses: Etiology, pathogenesis and management

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

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EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

about

P2860

P2860

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

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