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High-throughput splicing assays identify missense and silent splice-disruptive<i>POU1F1</i>variants underlying pituitary hormone deficiency

2021-02-08

Abstract excerpt

Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense variants in unrelated hypopituitarism patients that were predicted to affect a minor isoform, POU1F1 beta, which can act as a transcriptional repressor. These variants retain repre...

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Literature Corpus work
96b16d44-7c3c-5ccf-a91a-083c4259cfd7
DOI
10.1101/2021.02.04.21249469
Open publication

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High-throughput splicing assays identify missense and silent splice-disruptive<i>POU1F1</i>variants underlying pituitary hormone deficiencyDOI 10.1101/2021.02.04.21249469
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