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https://www.academia.edu/7646250/A_mutation_in_the_lipase_H_LIPH_gene_underlie_autosomal_r…

Hum Genet (2007) 121:319–325 DOI 10.1007/s00439-007-0344-0 O RI G I NAL IN VE S T I GA TI O N A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis Ghazanfar Ali · Muhammad Salman Chishti · Syed Irfan Raza · Peter John · Wasim Ahmad Received: 21 Decemb…

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11480799

…ll sequenced liver samples ( Table 2 ). We used the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) evidence framework for sequence variant interpretation to assess the potential of pathogenicity for each of the germline …

https://www.academia.edu/10790815/Strong_genetic_admixture_in_the_Altai_at_the_Middle_Bron…

Forensic Science International: Genetics 12 (2014) 199–207 Contents lists available at ScienceDirect Forensic Science International: Genetics journal homepage: www.elsevier.com/locate/fsig Strong genetic admixture in the Altai at the Middle Bronze Age revealed by uniparental and …