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Dermatology

Free Subscription Articles published in Hum Mutat Retrieve available abstracts of 6 articles: HTML format

Single Articles

January 2025
1. AHTING S, Popp D, Oppermann H, Strehlow V, et al
   Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.
   Hum Mutat. 2025;2025:6657400.
   PubMed     Abstract available
   
   
   
2. SOEJIMA M, Koda Y
   Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe-Based Melting Curve Analysis.
   Hum Mutat. 2025;2025:3468799.
   PubMed     Abstract available
   
   
   
3. KHAN TN, Liu C, Yap KL, Satti HS, et al
   Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.
   Hum Mutat. 2025;2025:5530710.
   PubMed     Abstract available
   
   
   
4. CAO Q, Zhao A, Long Z, Wang X, et al
   Optical Genomic Mapping and Next-Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting PARN Gene in Dyskeratosis Congenita.
   Hum Mutat. 2025;2025:9290736.
   PubMed     Abstract available
   
   
   January 2024
5. LONNING PE, Nikolaienko O, Knappskog S
   Constitutional BRCA1 Epimutations: A Key for Understanding Basal-Like Breast and High-Grade Serous Ovarian Cancer.
   Hum Mutat. 2024;2024:7353984.
   PubMed     Abstract available
   
   
   
6. CLOWES V, Ma X, Maude H, Dennis C, et al
   Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.
   Hum Mutat. 2024;2024:6420246.
   PubMed     Abstract available
   
   

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