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Academic Journal

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Subjects: MICROCEPHALY; ENDONUCLEASES; GENETIC mutation

  • Source: American Journal of Human Genetics. Jul2016, Vol. 99 Issue 1, p228-235. 8p.

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Academic Journal

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

  • Authors : Trost B; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Walker S

Subjects: Whole Genome Sequencing* ; Workflow*; DNA Copy Number Variations/DNA Copy Number Variations/DNA Copy Number Variations/*genetics

  • Source: American journal of human genetics [Am J Hum Genet] 2018 Jan 04; Vol. 102 (1), pp. 142-155.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605

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  • 1-2 of  2 results for ""Reuter, Miriam S.""