Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

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Complete Sequence of the 22q11.2 Allele...Modifiers of Conotruncal Heart Defects.pdf (2.84 MB)

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2020

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Article

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Artículos Medicina y Ciencias de la Salud

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https://doi.org/10.1016/j.ajhg.2019.11.010
 http://hdl.handle.net/11447/4133

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16 p.

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Abstract

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletio...

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American Journal of Human Genetics . 2020 Jan 2;106(1):26-40

Keywords

CRKL , DiGeorge syndrome , TBX1 , Chromosome 22q11.2 deletion syndrome , Complex trait , Congenital heart disease , Conotruncal heart defects , Copy number variation , Genetic association , Genetic modifier; haploinsufficiency. , Haploinsufficiency

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