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    1. Molecular characterization of HOXC8 gene and methylation status analysis of its exon 1 associated with the length of cashmere fiber in Liaoning cashmere goat Genetica · 2017 · 20 citations
    2. Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse Molecular genetics and genomics · 2004 · 12 citations
    3. A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 European journal of endocrinology · 2017 · 7 citations
    4. PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene Indian Journal of Dermatology Venereology and Leprology · 2023 · 2 citations
    5. 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair Journal of Investigative Dermatology · 2016
    6. Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia American Journal of Human Genetics · 2005 · 195 citations
    7. A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome Journal of The European Academy of Dermatology and Venereology · 2009 · 8 citations
    8. Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review Dermatology · 2013 · 3 citations
    9. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    10. 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells Journal of Investigative Dermatology · 2019 · 1 citations
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