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Graphical view of protein TCF20 with the variants c.955C>T (p.(Gln319*)) and c.3837del (p.(Asp1280Ilefs*71)) identified in individuals 1 and 2: the variants c.1534 A>G (p.(Lys512Glu)) and c.3518delA (p.(Lys1173Argfs*5)) identified by Babbs et al1 are highlighted. The previously annotated PEST domains5 (P1-P3), the nuclear localisation signal domains (N1-N3) and the zinc finger domain (ZF) are shown. Scale bar corresponds to 100 amino acids (AA).
