Varaico: Literature-Extracted Genetic Variants

Gene:POLD3
Variant:p.I10T
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POLD3

NM_006591.3:p.I10T

Associated Papers

POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments.

Chouery E et al.

European Journal of Human Genetics : Ejhg, 2025

POLD3 as Controller of Replicative DNA Repair.

Alli N et al.

International Journal of Molecular Sciences, 2024

Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.

Riestra MR et al.

Journal of Clinical Immunology, 2023

POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment.

Mehawej C et al.

Clinical Immunology (orlando, Fla.), 2023

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