Varaico: Literature-Extracted Genetic Variants

Gene:PIGN
Variant:p.R613*
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PIGN

NM_176787.5:p.R613*

Associated Papers

PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.

Siavrienė E et al.

Medicina (kaunas, Lithuania), 2022

36363484 (PubMed )
Supplement: medicina-58-01526-s001.zip › Supplementary_table_1_Clinical_features.xlsx › Clinical_features

PIGN encephalopathy: Characterizing the epileptology.

Bayat A et al.

Epilepsia, 2022

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Nastase A et al.

Scientific Reports, 2021

34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_4_WGS_cell_
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