Article

Human patient <i>SFPQ</i> homozygous mutation is found deleterious for brain and motor development in a zebrafish model

2020-03-18

Abstract excerpt

SFPQ (Splicing factor proline- and glutamine-rich) is a DNA and RNA binding protein involved in transcription, pre-mRNA splicing, and DNA damage repair and it has been previously implicated in neurodegenerative disorders. A homozygous p.Ser660Asn variant in SFPQ was identified through whole exome sequencing (WES) in an Italian woman presented a complex neurological phenotype with intellectual disability, periphera...

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Literature Corpus work: 5a96ec28-0d05-5e03-a1fd-1ff29531b831
DOI: 10.1101/2020.03.18.993634

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