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Human Mutation|April 14, 2025
Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local OriginM Jankowski, P Daca-Roszak, I Bałasz-Chmielewska, et al.Human Mutation|April 14, 2025
Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 CasesMonica Thet, John-Paul Plazzer, Gabriel Capella, et al.Human Mutation|April 14, 2025
The UCMD-Causing COL6A1 (c.930 + 189C > T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 ChainsCarolin D Freiburg, Herimela Solomon-Degefa, Patrick Freiburg, et al.Human Mutation|April 14, 2025
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and PhenotypesMaria Sáez González, Kes Kloosterhuis, Laura van de Pol, et al.Human Mutation|April 14, 2025
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP FrameworkStéphanie S Cornelis, Miriam Bauwens, Lonneke Haer-Wigman, et al.Human Mutation|April 14, 2025
Pi∗S and Pi∗Z Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4-Independent EnhancerAinhoa Escuela-Escobar, Esther Herrera-Luis, Elena Martín-González, et al.Human Mutation|April 14, 2025
A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional AlternationsMengyuan Yang, Ziyan Tong, Zhijun Yuan, et al.Human Mutation|April 14, 2025
Whole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich FusionGuodong Gao, Yinglun Tian, Kan-Lin Hung, et al.Human Mutation|April 14, 2025
Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based CasesMing Chen, Allan Motyer, Bruce V Taylor, et al.Human Mutation|April 14, 2025
Application of Targeted Y-Chromosomal Capture Enrichment to Increase the Resolution of Native American Haplogroup QZehra Köksal, Claus Børsting, Graciela Bailliet, et al.Pageof 575