Articles with "pou1f1 pathogenic" as a keyword



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A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion

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Published in 2021 at "Clinical Genetics"

DOI: 10.1111/cge.14043

Abstract: Up: A schematic-diagram of POU1F1-gene. Down right: an electrophoretogram of the detected novel pathogenic-variant in comparison with wild-type POU1F1 exon-6 sequence. Down left: Family pedigree of the two-siblings reported. read more here.

Keywords: pathogenic variant; variant two; pou1f1; pou1f1 pathogenic ... See more keywords