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Detection of DYNC1H1 variant. (A) Pedigree of family, black circles represent the affected children, II-2 is Twin A and II-3 Twin B. (B) Sanger sequencing confirmation of novel de novo DYNC1H1 variant (NM_001376: c.752G>T; p.Arg251Leu) in Twin A and Twin B and absence from unaffected parents. (C) Arginine (R) at position 251 in DYNC1H1 is a highly conserved amino acid residue.
