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Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two familial cases

Journal of Biochemical and Clinical Genetics, ISSN: 1658-807X, Page: 056-060
2024
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Article Description

Journal of Biochemical and Clinical Genetics

Bibliographic Details

Hajira Karim; Lima Oria; Muhsin Elmas

Discover STM Publishing Ltd.

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