Varaico: Literature-Extracted Genetic Variants

Gene:RIOK1
Variant:p.R114Q
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RIOK1

NM_031480.3:p.R114Q

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.

De Ita M et al.

Genes, 2022

36140829 (PubMed )
Supplement: genes-13-01662-s001.zip › genes-1887476-supplementary.pdf

A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.

Mohamadian M et al.

Journal of Clinical Laboratory Analysis, 2020

33079427 (PubMed )
Supplement: JCLA-34-e23484-s001.xlsx › Sheet2

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.

Parlato M et al.

Embo Molecular Medicine, 2018

29567797 (PubMed )
Supplement: EMMM-10-e8483-s001.pdf

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
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