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Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.
Yan-Ling Long
Sha Li
Limeng Dai
Xiao Liu
Xin Yin
Jiayun Ren
Hong Guo
Yong Liu
Xiaohong Meng
Shi-Ying Li
Published in:
Ophthalmic genetics (2020)
Keyphrases
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copy number
genome wide
genome wide identification
dna methylation