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A NOVEL MISSENSE MUTATION OUTSIDE DNAJ DOMAIN OF DNAJC21 IS ASSOCIATED WITH SHWACHMAN-DIAMOND SYNDROME
Mohammad Bilal Alsavaf1, Jeffrey M. Verboon2, Muhammed E. Dogan3, Zehra Busra Azizoglu4, Fatma Zehra Okus1, Alper Ozcan1, Munis Dundar3, Ahmet Eken4, Hamiyet Donmez Altıuntas5, Vijay G. Sankaran2, Ekrem Unal1
1 Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine
2 Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston
3 Department of Medical Genetic, Erciyes University
4 Gevher Nesibe Genom and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine
5 Department of Medical Biology, Erciyes University, Faculty of Medicine
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