A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
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A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
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scientific article published on 26 November 2019
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name
A novel POC1A variant in an al ...... presentation of seven patients
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type
label
A novel POC1A variant in an al ...... presentation of seven patients
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prefLabel
A novel POC1A variant in an al ...... presentation of seven patients
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P2093
P50
P1476
A novel POC1A variant in an al ...... presentation of seven patients
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P2093
Adila Al-Kindi
Arndt Rolfs
Lia Abbasi-Moheb
Maryam Al-Shehhi
Oliver Brandau
Peter Bauer
P304
P356
10.1038/S10038-019-0693-2
P577
2019-11-26T00:00:00Z