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Publications by Jared T. Sokol

Characterization of a Variant of Gap Junction Protein Α8 Identified in a Family With Hereditary Cataract

Multidisciplinary

English

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INPP5K Variant Causes Autosomal Recessive Congenital Cataract in a Pakistani Family

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Targeted Next-Generation Sequencing Identified a Novel ANK1 Mutation Associated With Hereditary Spherocytosis in a Chinese Family

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A Novel Compound Heterozygous Variant Identified in GLDC Gene in a Chinese Family With Non-Ketotic Hyperglycinemia

BMC Medical Genetics

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Hereditary Renal Amyloidosis With a Variant Lysozyme p.Trp82Arg in a Chinese Family: Case Report and Literature Review

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Characterization of a Novel Germline PALB2 Duplication in a Hereditary Breast and Ovarian Cancer Family

Breast Cancer Research and Treatment

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A Family With Hereditary Nonpolipoid Colocteral Carcinoma

The Journal of Tepecik Education and Research Hospital

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Novel EXT1 Mutation Identified in a Pedigree With Hereditary Multiple Exostoses

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A Rare PHKA2 Variant (p.G991A) Identified in a Patient With Ketotic Hypoglycemia

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A Family With Distal Hereditary Motor Neuropathy and a K141Q Mutation of Small Heat Shock Protein HSPB1

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Internal Medicine

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