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   Valeria Lo Faro et al, 2024, Cell Reports Medicine CrossRef
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   Teng Gao et al, 2023, Nature Genetics CrossRef
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   Ju Zhao et al, 2020, Taiwanese Journal of Obstetrics and Gynecology CrossRef
5. A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China
   Wenjuan Wu et al, 2019, Medicine CrossRef
6. First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate
   Yao Wang et al, 2022, BMC Medical Genomics CrossRef