truncating variant risk_factor_for mental retardation
Evidence from:
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Evidence (2 sources)
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
(2009)
PMID:19377476
cited
Truncating variants are usually highly deleterious... we considered the set of truncating variants detected in the screen to identify new genes involved in mental retardation.
confidence: 0.95
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
(2009)
PMID:19377476
cited
as appears to be the case for truncating variants, missense variants may include a subset that causes mental retardation
confidence: 0.88