Varaico: Literature-Extracted Genetic Variants

Gene:POLA1
Variant:p.S458_A459Splc
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POLA1

NM_016937.4:p.S458_A459Splc

Associated Papers

Identification of POLA1 gene deep intronic mutation confirms diagnosis of X-linked reticulate pigmentary disorder in a Chinese patient.

Zhang Y et al.

Indian Journal of Dermatology, Venereology and Leprology, 2024

Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR).

Li MWY et al.

Journal of Clinical Immunology, 2024

Inherited Reticulate Pigmentary Disorders.

Lin MH et al.

Genes, 2023

Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency.

Starokadomskyy P et al.

Journal of Clinical Immunology, 2021

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Schmit M et al.

International Journal of Molecular Sciences, 2021

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.

Starokadomskyy P et al.

Nature Immunology, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."