Open AccessNovel pathogenic MAPKBP1 variant in a family with nephronophthisis
Author(s) -
Mohamed H. AlHamed,
Hamad Alzaidan,
Maged H. Hussein,
Lina AlBaik,
Alya Qari,
John A. Sayer,
Faiqa Imtiaz
Publication year - 2020
Publication title -
clinical kidney journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.033
H-Index - 40
eISSN - 2048-8513
pISSN - 2048-8505
DOI - 10.1093/ckj/sfaa090
Subject(s) - nephronophthisis , medicine , genetics , virology , gene , phenotype , biology
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