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Publications by Guang‐Hui Wu

Novel Heterozygous BPIFC Variant in a Chinese Pedigree With Hereditary Trichilemmal Cysts

Molecular genetics & genomic medicine

Molecular Biology

English

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Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree With Xeroderma Pigmentosum, Variant Type

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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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Novel EXT1 Mutation Identified in a Pedigree With Hereditary Multiple Exostoses

Oncology Reports

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Variant Analysis in Chinese Families With Hereditary Hemorrhagic Telangiectasia

Molecular genetics & genomic medicine

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Identification of a Novel Compound Heterozygous Mutation of the CYP21A2 Gene Causing 21‑hydroxylase Deficiency in a Chinese Pedigree

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Multimodal Imaging in a Pedigree of X-Linked Retinoschisis With a Novel RS1 Variant

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Hereditary Sebaceous Cysts

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Novel Homozygous PANK2 Mutation Identified in a Consanguineous Chinese Pedigree With Pantothenate Kinase-Associated Neurodegeneration

Biomedical Reports

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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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