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Fig s2 ypel3b1309 and ypel3b1310 CRISPR engineered alleles are equivalent to the YPEL3 variant. (A) Zebrafish mutant alleles created by CRISPR/Cas9 technology. Two alleles were generated using the same single guide RNA. Both ypel3b1309 and ypel3b1310 are frameshift mutations, p.Asp56Glyfs*1 and p.Gly60Argfs*4, respectively. (B) Schematic representations of WT human and zebrafish YPEL3 variants. WT YPEL3: WT human short isoform of 119 amino acids (aa). WT Ypel3: wild-type zebrafish isoform of 119 aa. (C) Schematic representation of mutant YPEL3 variants based on the short isoform annotations. UDN variant: predicted YPEL3 variant found in the affected person. B1309, B1310: mutant zebrafish protein variants. Light blue: endogenous amino acids. Green: Exogenous amino acids introduced by the frameshift mutation.