PMC8855097_01
(A) Pedigree of the family. (B) Sequencing of TALDO1 gene (reference cDNA sequence, NM_006755.2) revealed two heterozygous variations, resulting in A to G splicing at nucleotide position 462-2 (c.462-2A > G) and C to T substitution at nucleotide position 574 [c.574C > T(p.Arg192Cyrs)]. Het, heterozygous.
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F1
Consequently, WES was performed on the proband and his healthy parents (Figures 1A,B) to search for potential variants.