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Reverse phenotyping of whole-genome sequencing data from patients with 22q11.2 deletions identifies an extensive catalog of broader phenotypic variability and benign variation in pathogenic disease genes
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Reverse phenotyping of whole-genome sequencing data from patients with 22q11.2 deletions identifies an extensive catalog of broader phenotypic variability and benign variation in pathogenic disease genes
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Date Issued
2018
Author(s)
REPETTO LISBOA, MARIA GABRIELA
Facultad de Medicina ClÃnica Alemana Universidad del Desarrollo
Hestand, MS
Nowakowska, BA
Vergaelen, E
Demaerel, W
Breckpot, J
Cutler, DJ
Crowley, TB
Armando, M
Philip, N
Schneider, M
Eliez, S
Devriendt, K
McDonald-McGinn, DM
Morrow, BE
Swillen, A
Vermeesch, JR
Type
Resource Types::text::conference output::conference proceedings::conference poster
URL
https://investigadores.udd.cl/handle/123456789/9461
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1
Acquisition Date
Nov 23, 2024
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