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WES results revealed a novel homozygous insertion mutation, c.109_126dup (p.Asp37_Gly42dup), when you look at the ARSA gene. This variation is situated in the very first exon of ARSA, rewarding the requirements to be classified as likely pathogenic, according to the ACMG guidelines plus it has also been discovered to be co-segregating in the family. The MD simulation analysis revealed this mutation affected the structure in additio
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