Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein-protein interactions
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Background: Mandibular hypoplasia, Deafness, Progeroid features, and Lipodystrophy (MDPL) syndrome is a very rare genetic disorder linked to variants in the POLD1 gene, which encodes the catalytic subunit of DNA polymerase delta,... ...