Varaico: Literature-Extracted Genetic Variants

Gene:PABPC3
Variant:p.I288I
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PABPC3

NM_030979.3:p.I288I

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

Heterogeneity of genomic evolution and mutational profiles in multiple myeloma.

Bolli N et al.

Nature Communications, 2014

24429703 (PubMed )
Supplement: ncomms3997-s2.xlsx › Variants
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