Varaico: Literature-Extracted Genetic Variants

Gene:PABPC3
Variant:p.R290R
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PABPC3

NM_030979.3:p.R290R

Associated Papers

Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation.

Takeichi T et al.

Frontiers in Immunology, 2021

35046931 (PubMed )
Supplement: DataSheet_1.pdf

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

28076423 (PubMed )
Supplement: pone.0167581.s003.xlsx › Egyptian-specific
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