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Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome through direct Sanger sequencing identified a novel SLC2A2 splice site variant.
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This page is a summary of: Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant, Journal of Pediatric Endocrinology and Metabolism, November 2019, De Gruyter,
DOI: 10.1515/jpem-2019-0235.
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