Title : Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Pub. Date : 2018 May

PMID : 29330883






1 Functional Relationships(s)
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1 Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Dipeptides arginine-glutamic acid dipeptide repeats Homo sapiens