Fig. 2From: A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case reportThe genetic findings of the patient. (A) The genetic examination revealed that the patient carried a de novo variant (POLR3B: c.3137G > A, p.R1046H), and the parent-child relationship was established by parenthood analysis. (B) Chromatograms of the target variant. (C) Conservation analysis of amino acid sequences on p. R1046H variant sites are highly conservedBack to article page