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“Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu‐Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome” Am J Med Genet. 161:518–526, 2013
Author(s) -
Narumi Yoko,
Min ByungJoo,
Shimizu Kenji,
Kazukawa Itsuro,
Sameshima Kiyoko,
Nakamura Koichi,
Kosho Tomoki,
Rhee Yumie,
Chung YoonSok,
Kim OkHwa,
Fukushima Yoshimitsu,
Park WoongYang,
Nishimura Gen
Publication year - 2013
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.36113
Subject(s) - regret , exon , column (typography) , genetics , sequence (biology) , medicine , biology , computer science , gene , telecommunications , frame (networking) , machine learning
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