Varaico: Literature-Extracted Genetic Variants

Gene:PRICKLE3
Variant:p.R175C
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PRICKLE3

NM_006150.5:p.R175C

Associated Papers

Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Koh J et al.

Blood Advances, 2021

34535012 (PubMed )
Supplement: advancesADV2021004562-suppl2.xlsx › S9

Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.

Vaidyanathan K et al.

The Journal of Biological Chemistry, 2017

Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.

Niranjan TS et al.

Plos One, 2015

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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."