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Human Mutation|November 21, 2002
BRCA1 and BRCA2 in Indian breast cancer patientsSunita Saxena, Csilla I Szabo, Sandrine Chopin, et al.
Human Mutation|January 24, 2006
Novel PRG4 mutations underlie CACP in Saudi familiesAnas M Alazami, Sulaiman M Al-Mayouf, Carol-Ann Wyngaard, et al.
Human Mutation|May 15, 2026
Role of Macrophage-Related Genes GAS7 and ZEB2 in Acute Myocardial Infarction PathogenesisZhenfang Liu, Jia Song, Lingling Li, et al.
Human Mutation|May 11, 2026
Novel ABCG5 and ABCG8 Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Therapeutic ChallengesPrashant Warang, Rashmi Dongerdiye, Pradnya Dehadrai, et al.
Human Mutation|May 8, 2026
Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPESCharlotte Matton, Julie Van De Velde, Marieke De Bruyne, et al.
Human Mutation|August 5, 2026
Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian FamiliesNasibeh Soltani, Zahra Shahbazi, Mohammad Sadegh Fallah, et al.
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