Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Santhosh DhanrajAnna MatveevHongbing LiSupanun LauhasurayotinLawrence JardineMichaela CadaBozana ZlateskaChetankumar S TailorJoseph ZhouRoberto Mendoza-LondonoAjoy VincentPeter R DurieStephen W SchererJohanna M RommensElise HeonYigal DrorPublished in: Blood (2017)
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