Article

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

2013-08-08

Abstract excerpt

No abstract is available from the source.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 123a26ae-1196-52e2-8359-078bb106cf90
DOI: 10.1016/j.ajhg.2013.07.019
PMCID: PMC3738815

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome SequencingDOI 10.1016/j.ajhg.2013.07.019Read

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.Semantic proximity Read

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.Semantic proximity Read

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.Semantic proximity Read

Next-generation sequencing in X-linked intellectual disability.Semantic proximity Read

Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.Semantic proximity Read

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.Semantic proximity Read

HDAM: a resource of human disease associated mutations from next generation sequencing studies.Semantic proximity Read

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencingSemantic proximity Read

Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.Semantic proximity Read

Four families with X-linked intellectual disability affected males: Novel deleterious variants and clinical features with the review of literatureSemantic proximity Read

WASPbase: a database of WAS- and XLT-causing mutations.Semantic proximity Read

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.Semantic proximity Read