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Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
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Clinical/Scientific Note
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations
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Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, et al.

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