Roston A, Evans D, Gill H et al, EPGEN Study. SETD1B-associated neurodevelopmental disorder. J Med Genet 2021;58:196–204. doi: 10.1136/jmedgenet-2019-106756
There is a typographical error in Individual 3’s reported nucleotide sequence. Currently it is correctly written as «c.5833T>C» on page 1 of the article (page 196 of the issue), but is misprinted twice elsewhere. It reads «c.5833T>P» on page 4 of the article (page 199 of the issue), just above the header for «Individual 4.» It also reads «c.5833T>P» in the header of Table 1 (page 201 of the issue).
The correct sequence should read: «c.5833T>C, p.(Phe1945Leu)» and it is located at position 12:122 268 077 in SETD1B (NM_001353345.1).