Literature citations
De novo variants disrupting the HX repeat motif of ATN1 cause a recognizable non-progressive neurocognitive syndrome.
Palmer E.E.; Hong S.; Al Zahrani F.; Hashem M.O.; Aleisa F.A.; Ahmed H.M.J.; Kandula T.; Macintosh R.; Minoche A.E.; Puttick C.; Gayevskiy V.; Drew A.P.; Cowley M.J.; Dinger M.; Rosenfeld J.A.; Xiao R.; Cho M.T.; Yakubu S.F.; Henderson L.B.; Guillen Sacoto M.J.; Begtrup A.; Hamad M.; Shinawi M.; Andrews M.V.; Jones M.C.; Lindstrom K.; Bristol R.E.; Kayani S.; Snyder M.; Villanueva M.M.; Schteinschnaider A.; Faivre L.; Thauvin C.; Vitobello A.; Roscioli T.; Kirk E.P.; Bye A.; Merzaban J.; Jaremko L.; Jaremko M.; Sachdev R.K.; Alkuraya F.S.; Arold S.T.;
Am. J. Hum. Genet. 104:542-552(2019)
Cited for: INVOLVEMENT IN CHEDDA; VARIANTS CHEDDA ASN-1054; TYR-1058; 1059-SER-HIS-1060 DELINS ASN-LEU; 1059-SER-HIS-1060 DELINS ASP-LEU; TYR-1060; ARG-1062; ASP-1062 AND ARG-1063; CHARACTERIZATION OF VARIANT CHEDDA TYR-1060; REGION;
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