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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual

Lily Zhang1, Xiao Mao2, Hongyu Long1

  • 1Neurology Department, Xiangya Hospital, Central South University, Changsha, China.

Frontiers in Genetics
|July 3, 2020
PubMed

Keywords:
congenital disorders of glycosylationglycosylphosphatidylinositolinfantile spasmsintellectual disabilityphosphatidylinositol glycan class Swhole-exome sequencing

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