A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos
A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder
Deletion of the nuclear isoform of poly(ADP-ribose) glycohydrolase (PARG) reveals its function in DNA repair, genomic stability and tumorigenesis
P764Phospholamban p.Arg14del-mutation related cardiomyopathy is a biventricular arrhythmogenic cardiomyopathy and protein-aggregate associated disease
PARG is dispensable for recovery from transient replicative stress but required to prevent detrimental accumulation of poly(ADP-ribose) upon prolonged replicative stress
PARG is recruited to DNA damage sites through poly(ADP-ribose)- and PCNA-dependent mechanisms
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