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Identification of rare and novel PHEX variants in X-linked hypophosphatemia.
Xiaosen Ma
Qianqian Pang
Yiyi Gong
Xiang Li
Wei Liu
Yan Jiang
Ou Wang
Mei Li
Xiaoping Xing
Weibo Xia
Published in:
The Journal of clinical endocrinology and metabolism (2024)
Our research expands the mutation spectrum of PHEX and highlights the significance of utilizing multiple genetic testing methods to diagnose XLH.
Keyphrases
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copy number
bioinformatics analysis
dna methylation
genome wide