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Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy
Author(s) -
Williams C.,
Jiang Y.H.,
Shashi V.,
Crimian R.,
Schoch K.,
Harper A.,
McHale D.,
Goldstein D.,
Petrovski S.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12581
Subject(s) - global developmental delay , function (biology) , loss function , genetics , biology , neuroscience , phenotype , gene
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