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    1. Comparative Skin Transcriptomics Reveals Key Regulators of Cashmere Fiber Production in Inner Mongolian Goats Animals · 2026
    2. Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study Frontiers in Medicine · 2026
    3. Real-world safety of Tepotinib: Insights from the Food and Drug Administration Adverse Event Reporting System PLoS ONE · 2025 · 1 citations
    4. Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant Human Genome Variation · 2026
    5. Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners. American Journal of Medical Genetics Part A · 1999
    6. Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant PloS one · 2012 · 6 citations
    7. Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing Psychiatry research. Case reports · 2023
    8. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    9. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    10. Aromatase deficiency in a male patient - Case report and review of the literature. Bone · 2016 · 36 citations
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