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The patient may have FINCA syndrome resulted from a novel compound heterozygous mutation of NHLRC2 gene c.1749C> G (p.F583L) and c.2129C> T (p.T710M). (A) Diagram of NHLRC2 gene and mutation location. The black rectangle indicates the exon region (drawn with reference to transcript NM198514.4). (B) Sanger first-generation sequencing verification results of NHLRC2 gene mutations. The red arrow indicates the site of mutation.
