Open AccessA Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case
Author(s) -
Lei Nie,
Yan Li,
Tangli Xiao,
Bo Zhang,
Jinghong Zhao,
Weiping Hou
Publication year - 2022
Publication title -
the nephron journals/nephron journals
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.951
H-Index - 72
eISSN - 2235-3186
pISSN - 1660-8151
DOI - 10.1159/000526847
Subject(s) - exome sequencing , sanger sequencing , proband , medicine , genetics , exome , compound heterozygosity , genetic testing , etiology , gene , dna sequencing , bioinformatics , mutation , pathology , biology