Open AccessA 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data
Author(s) -
López Maria,
PérezGrijalba Virginia,
GarcíaCobaleda Inmaculada,
DomínguezGarrido Elena
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3381
Subject(s) - medicine , copy number variation , genetics , computational biology , biology , gene , genome
Detecting clinical grade CNV based on WES is being improved in the NGS era.
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