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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. 2021 01 20; 109(2):241-256.e9.
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PubMed
subject areas
Amino Acid Sequence
Amino Acid Sequence
Animals
Animals
Cell Cycle Proteins
Cell Cycle Proteins
Cerebellar Diseases
Cerebellar Diseases
Cohort Studies
Cohort Studies
Female
Female
Gene Knockout Techniques
Gene Knockout Techniques
HEK293 Cells
HEK293 Cells
Heredodegenerative Disorders, Nervous System
Heredodegenerative Disorders, Nervous System
Humans
Humans
Male
Male
Mice
Mice
Mice, Inbred C57BL
Mice, Inbred C57BL
Mice, Transgenic
Mice, Transgenic
Microcephaly
Microcephaly
Mutation
Mutation
Pedigree
Pedigree
Peptidylprolyl Isomerase
Peptidylprolyl Isomerase
Protein Structure, Secondary
Protein Structure, Secondary
Protein Structure, Tertiary
Protein Structure, Tertiary
RNA Splicing Factors
RNA Splicing Factors
Spliceosomes
Spliceosomes
authors with profiles
Patrick Gaffney