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Human Mutation|February 12, 2026
TMEM106C, BSG, COPE, CDCA8, KPNA2, LIG1, UQCRH, and CCT5: Predictive of Survival and Immunotherapy Resistance in Hepatocellular CarcinomaKai Yu, Minqi Chen, Wanchao Hou, et al.
Human Mutation|July 31, 2025
Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target LociUmmey Hany, Christopher M Watson, Lu Liu, et al.
Human Mutation|June 16, 2025
Dilated Cardiomyopathy May Be Associated With a Novel Mitochondrial tRNASer(AGY) MutationYu Ding, Xuejiao Yu, Jian Xu, et al.
Human Mutation|June 11, 2025
CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic SpectrumElaine Zhang, Teresa Zhao, Tim Sikora, et al.
Human Mutation|April 14, 2025
Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB GeneV Manjunath, S G Thenral, B R Lakshmi, et al.
Human Mutation|April 14, 2025
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function VariantsJasmin J Hopkins, Matthew N Wakeling, Matthew B Johnson, et al.
Human Mutation|April 14, 2025
Gene Mutation Characteristics and Prognostic Significance in Acute Myeloid Leukemia Patients From Northeast ChinaYiyang Shen, Shuang Fu, Xuan Liu, et al.
Human Mutation|April 14, 2025
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe DiseaseSukirthini Balendran-Braun, Ursula Vinatzer, Sandra Liebmann-Reindl, et al.
Human Mutation|April 14, 2025
Long-Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False-Positive Exon Deletion Indicated by WES and MLPAXueping Qiu, Xin Jin, Jin Li, et al.
Human Mutation|April 14, 2025
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1Desiree DeMille, Jamie McDonald, Carmelo Bernabeu, et al.
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