A novel POC1A variant in an alternatively spliced exon...

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A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

Al-Kindi, Adila, Al-Shehhi, Maryam, Westenberger, Ana, Beetz, Christian, Scott, Patrick, Brandau, Oliver, Abbasi-Moheb, Lia, Yüksel, Zafer, Bauer, Peter, Rolfs, Arndt, Grüning, Nana-Maria
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Journal:
Journal of Human Genetics
DOI:
10.1038/s10038-019-0693-2
Date:
November, 2019
File:
PDF, 791 KB
2019
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