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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Identification of a novel FOXP1 variant in a patient with hypotonia, intellectual disability and severe speech impairment

ABSTRACT: A female patient with neurodevelopmental disorder, craniofacial dysmorphisms carrying a novel heterozygous FOXP1 variant, c.1030C>T, p.(Gln344Ter). This variant was not found in the parents, which was consistent with de novo inheritance.

INSTRUMENT(S): NextSeq 500

ORGANISM(S): Homo sapiens

SUBMITTER: Orazio Palumbo

PROVIDER: E-MTAB-13190 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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