Search Results - "proteomics"

Ciliopathies and oligogenic phenomena

Table of Contents: “…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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Ciliopathies and oligogenic phenomena

Table of Contents: “…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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Ciliopathies and oligogenic phenomena

Table of Contents: “…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.…”
Get full text
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