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Functional characterization of a novel PBX1 de novo missens..:
Alankarage, Dimuthu
;
Szot, Justin O
;
Pachter, Nick
...
qt6361t6d7. , 2020
Link:
https://escholarship.org/uc/item/6361t6d7
RT Journal T1
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt6361t6d7&Exemplar=1&LAN=DE A1 Alankarage, Dimuthu A1 Szot, Justin O A1 Pachter, Nick A1 Slavotinek, Anne A1 Selleri, Licia A1 Shieh, Joseph T A1 Winlaw, David A1 Giannoulatou, Eleni A1 Chapman, Gavin A1 Dunwoodie, Sally L PB eScholarship, University of California YR 2020 K1 Biological Sciences K1 Genetics K1 Rare Diseases K1 Congenital Structural Anomalies K1 Pediatric K1 Cardiovascular K1 Heart Disease K1 Aetiology K1 2.1 Biological and endogenous factors K1 Congenital K1 Adult K1 Animals K1 CRISPR-Cas Systems K1 Disease Models K1 Animal K1 Exome K1 Female K1 Heart Defects K1 Heterozygote K1 Humans K1 Infant K1 Male K1 Mice K1 Mutation K1 Missense K1 Pedigree K1 Phenotype K1 Pre-B-Cell Leukemia Transcription Factor 1 K1 Truncus Arteriosus K1 Persistent K1 Exome Sequencing K1 Medical and Health Sciences K1 Genetics & Heredity JF qt6361t6d7 LK http://dx.doi.org/https://escholarship.org/uc/item/6361t6d7 DO https://escholarship.org/uc/item/6361t6d7 SF ELIB - SuUB Bremen
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