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Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Heterozygous intragenic loss-of-function mutations of ERF, encoding an ETS transcription factor, were previously reported to cause a novel craniosynostosis ...
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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
To identify genetic causes of intellectual disability (ID), we screened a cohort of 986 individuals with moderate to severe ID for variants in 565 known or ...
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Ubiquitin-SUMO circuitry controls activated fanconi anemia ID complex dosage in response to DNA damage.
We show that central components of the Fanconi anemia (FA) DNA repair pathway, the tumor suppressor proteins FANCI and FANCD2 (the ID complex), are SUMOylated ...
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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased ...
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Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
A 0.8 kb intronic duplication in MAGT1 and a single base pair deletion in the last exon of ATRX were identified using a chromosome X-specific microarray and ...