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Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination

✍ Scribed by Shimojima, Keiko; Shimada, Shino; Tamasaki, Akiko; Akaboshi, Shinjiro; Komoike, Yuta; Saito, Akira; Furukawa, Toru; Yamamoto, Toshiyuki

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