ArticleMolecular genetics & genomic medicine2026

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.

Ibrahim Taha et al.PubMed ↗Full text ↗Publisher ↗

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