1.
Clin Genet
; 94(3-4): 393-395, 2018 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30059600
RESUMO
We identified the homozygous p.Arg12* variant in 5 patients with neurodevelopmental delay, but variation databases list many truncating heterozygous variants for this small 2-exon gene. As most of these affect the protein's C-terminus, loss-of-function mediated pathogenicity may be confined to bi-allelic truncating variants in exon 1 (nonsense-mediated decay!) or in the catalytically active Nudix box.