A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data.
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ABSTRACT:
SUBMITTER: Lopez M
PROVIDER: S-EPMC7752442 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
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A 22.5 kb deletion in <i>CUL4B</i> causing Cabezas syndrome identified using CNV approach from WES data.
López Maria M Pérez-Grijalba Virginia V García-Cobaleda Inmaculada I Domínguez-Garrido Elena E
Clinical case reports 20200929 12
Detecting clinical grade CNV based on WES is being improved in the NGS era. ...[more]
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