The c.863A > G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease
ConclusionThese results suggest that the c.863A>G (p.Glu288Gly) homozygous variant is not a pathogenic variation, but a benign variant.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Juan Yang,
Xiaoting Ding,
Shasha Meng,
Jinhua Cai,
Weihui Zhou Tags: ORIGINAL ARTICLE Source Type: research