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Human Mutation|April 14, 2025
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein StabilityVirginia Clowes, Xiaolun Ma, Hannah Maude, et al.
Human Mutation|April 14, 2025
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort StudyArtem Borovikov, Nailya Galeeva, Andrey Marakhonov, et al.
Human Mutation|April 14, 2025
Genome Sequencing of Idiopathic Speech DelayElse Eising, Arianna Vino, Heather L Mabie, et al.
Human Mutation|April 14, 2025
Disruption of Intracellular Calcium Homeostasis Leads to ERLIN2-Linked Hereditary Spastic Paraplegia in Patient-Derived Stem Cell ModelsXintong Zhu, Xiaoyin Tan, Junwen Wang, et al.
Human Mutation|April 14, 2025
Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 LocusZibin Lin, Jiale Xiang, Xiangzhong Sun, et al.
Human Mutation|April 14, 2025
Estimating the Prevalence of GNE Myopathy Using Population Genetic DatabasesAlexa Derksen, Rachel Thompson, Madeeha Shaikh, et al.
Human Mutation|April 14, 2025
Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic TestingCecelia R Miller, Jin Fang, Pamela Snyder, et al.
Human Mutation|April 14, 2025
The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)Kevin Uguen, Chandran Ka, Gwenaelle Collod-Béroud, et al.
Human Mutation|April 14, 2025
Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase CholestasisLi Wang, Yi-Ling Qiu, Kuerbanjiang Abuduxikuer, et al.
Human Mutation|April 14, 2025
Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal TranscriptsPauline Arnaud, Margaux Cadenet, Zakaria Mougin, et al.
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