Ciliopathies and oligogenic phenomena [electronic resource] / Nicholas Katsanis.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Molecular genetics of human disease: Publisher: London : Henry Stewart Talks, 2015Description: 1 online resource (1 streaming video file (55 min.) : color, sound)Subject(s): Cilia and ciliary motion | Human molecular genetics | Medical genetics | Systems biology | Alleles | Cilia -- genetics | Cilia -- pathology | Genetics, Medical | Genome, Human | Mutation -- genetics | Phenotype | Systems BiologyOnline resources: Click here to access online | Series Animated audio-visual presentation with synchronized narration.
Title from title frames.
Contents: Ciliopathies: multisystemic disorders caused by structural and/or functional defects of the primary cilium -- Mutations in almost 100 genes discovered to date, no clear pattern between specific genes and specific phenotypes -- Functional interpretation of variants critical for understanding the contribution of alleles to disease severity and pleiotropy -- A systems-based consideration for the total amount of pathogenic variation in the ciliary proteome begins to predict clinical substructure.
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Mode of access: World Wide Web.