Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1

Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Ayano Inui, Masako Ikemiyagi, Isamu Kamimaki, Kenjiro Kosaki

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Medicine & Life Sciences