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A Novel Homozygous Pgap2 Mutation Causing Hyperphosphatasia With Mental Retardation Syndrome-3

Deniz Esin,Fahrettin Duymus,Busra Goksel Tulgar,Ebru Marzioglu Ozdemir,Tulun Cora,Ayse Kartal

MOLECULAR GENETICS AND METABOLISM（2021）

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Key words
novel homozygous pgap2 mutation,hyperphosphatasia
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