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Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.
Yuan Tian
Linlin Zhang
Ying Li
Jinshuang Gao
Haiyang Yu
Yaqing Guo
Liting Jia
Published in:
Molecular genetics & genomic medicine (2019)
The homozygous variant of c.277C>T of the PEX11B gene probably underlie the disease in this child and her brother.
Keyphrases
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copy number
mental health
gene expression