Associated Papers
Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients.
Cui C et al.
Clinical, Cosmetic and Investigational Dermatology, 2025
Effect of rare coding variants in the CFI gene on Factor I expression levels.
de Jong S et al.
Human Molecular Genetics, 2020
32510551 (PubMed )
Supplement: supp_table_3_ddaa114.xlsx › Sheet1
APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease.
Bettens K et al.
Human Mutation, 2009
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S et al.
Human Mutation, 2009
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