Varaico: Literature-Extracted Genetic Variants

Gene:POTEF
Variant:p.I211T
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POTEF

NM_001099771.2:p.I211T

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

EBV+ nodal T/NK-cell lymphoma associated with clonal hematopoiesis and structural variations of the viral genome.

Kato S et al.

Blood Advances, 2024

38429084 (PubMed )
Supplement: BLOODA_ADV-2023-012019-mmc1.pdf

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_2__manuscript_supplementary_material_.xlsx › Variant_details

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10493.xls › SNVIndel

Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Abdollahi S et al.

Biomarker Research, 2021

34635181 (PubMed )
Supplement: 40364_2021_330_MOESM2_ESM.xlsx › ___1

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7

Loss of human ICOSL results in combined immunodeficiency.

Roussel L et al.

The Journal of Experimental Medicine, 2018

30498080 (PubMed )
Supplement: JEM_20180668_TableS1.xlsx › SR5064319_min_10_reads_annotate

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z et al.

Bmc Medical Genetics, 2018

30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2

Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma.

Wang A et al.

Nature Communications, 2018

29497050 (PubMed )
Supplement: 41467_2018_3276_MOESM5_ESM.xlsx › ___1

High-risk follicular lymphomas harbour more somatic mutations including those in the AID-motif.

Tsukamoto T et al.

Scientific Reports, 2017

29070849 (PubMed )
Supplement: 41598_2017_14150_MOESM2_ESM.xlsx › Sheet1

Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma.

Kannan K et al.

Oncotarget, 2012

23104868 (PubMed )
Supplement: oncotarget-03-1194-s001.pdf
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