Varaico: Literature-Extracted Genetic Variants

Gene:ITPR1
Variant:p.Q40*
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ITPR1

NM_001378452.1:p.Q40*

Associated Papers

Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.

Trizuljak J et al.

Platelets, 2024

39212265 (PubMed )
Supplement: supplement_1.pdf

Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma.

Akin-Bali DF

Ophthalmic Genetics, 2021

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