Article

Loss of function of ADNP by an intragenic inversion: towards an out-of frame start codon mechanism

2022-11-18

Abstract excerpt

<title>Abstract</title> <p><italic>ADNP</italic> is a well-known gene implicated in intellectual disability and its molecular spectrum consists mainly in loss of function variant in the <italic>ADNP</italic> last and largest exon. Here, we report the first description of a patient with intellectual disability identified with an intragenic inversion in <italic>ADNP</italic>. RNAseq experiment showed a splice skipp...

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Literature Corpus work: 72e3899f-3041-516c-b76c-fd817e201f46
DOI: 10.21203/rs.3.rs-2272486/v1

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