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Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
Author(s) -
Boot Erik,
Linders Cathelijne C.,
Tromp Sterre H.,
Boogaard MarieJosé,
Eeghen Agnies M.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62380
Subject(s) - haploinsufficiency , intellectual disability , genetics , medicine , brugada syndrome , gene , biology , phenotype
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