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Table 1 Gene locus((NM_000271.4) c.178 C > T, c.2728G > A) of the gene NPC1 was amplified by PCR and identified by Sanger sequencing

From: A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis

  Variance region Base(s) change
Patient E2 c.178 C > T (p.Q60X)
E18 c.2728G > A (p.G910S)
Patient’s father E2 c.178 C > T (p.Q60X)
Patient’s mother E18 c.178 C > T (p.Q60X)