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Homozygous 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.

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Title: Homozygous 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.
Authors: Taha, Ibrahim1,2 (AUTHOR) ibrahim.taha@aaup.edu, Minelli, Antonella2 (AUTHOR), Danesino, Cesare2 (AUTHOR), Swalmeh, Abdelrahman3 (AUTHOR), Huraibat, Khalil1 (AUTHOR), Al‐Labadi, Liana1 (AUTHOR), Obar, Rema1 (AUTHOR), Beshtawi, Khaled R.4 (AUTHOR), Samrah, Lubna Abu1 (AUTHOR), Mohammad, Yousef Awlad1 (AUTHOR), Farah, Aya1 (AUTHOR), Obar, Abdulrahman3 (AUTHOR), Khalaf, Mutasem5 (AUTHOR), Nasser, Orwa1,6 (AUTHOR)
Source: Molecular Genetics & Genomic Medicine. May2026, Vol. 14 Issue 5, p1-9. 9p.
Database: Academic Search Ultimate
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  Data: Homozygous 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.
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  Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Genomic+Medicine%22">Molecular Genetics & Genomic Medicine</searchLink>. May2026, Vol. 14 Issue 5, p1-9. 9p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=194013656
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      – Type: doi
        Value: 10.1002/mgg3.70226
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      – Code: eng
        Text: English
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        PageCount: 9
        StartPage: 1
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      – TitleFull: Homozygous 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.
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            – D: 01
              M: 05
              Text: May2026
              Type: published
              Y: 2026
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