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SaveHomozygous Pathogenic Variant in Elongation Factor-Like 1 (EFL1) as a Causal Factor in Shwachman-Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations
Taha, Ibrahim; Minelli, Antonella; Danesino, Cesare; Swalmeh, Abdelrahman; Huraibat, Khalil; Al-Labadi, Liana; Obar, Rema; Beshtawi, Khaled R.; Samrah, Lubna Abu; Mohammad, Yousef Awlad; Farah, Aya; Obar, Abdulrahman; Khalaf, Mutasem; Nasser, Orwa
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