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(a) The sequences of five detected variants are illustrated by Sanger sequencing. Variant c.851‐33T>A was exhibited in both homozygous (Homo; an example from patient 1.1) and heterozygous (Hetero; an example from patient 3.1) patterns. (b) Schematics of the NTRK1 gene and its product, TrkA peptide, showing the locations of these five variants
