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Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

Atsushi Takata, Maiko Kato, Masayuki Nakamura, Takeo Yoshikawa, Shigenobu Kanba, Akira Sano and Tadafumi Kato*

Genome Biology 2011, 12:R92  doi:10.1186/gb-2011-12-9-r92

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