Varaico: Literature-Extracted Genetic Variants

Gene:SKIC3
Variant:p.K637E
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SKIC3

NM_014639.4:p.K637E

Associated Papers

Genetic evaluation in indeterminate acute liver failure: A post hoc analysis.

Wang C et al.

Arab Journal of Gastroenterology : the Official Publication of the Pan-arab Association of Gastroenterology, 2024

Severe hypertension caused by 17α-hydroxylase deficiency: A case report.

Zhao Y et al.

Heliyon, 2023

36967917 (PubMed )
Supplement: mmc1.docx

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

Luo H et al.

European Journal of Human Genetics : Ejhg, 2021

33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Jiang L et al.

Plos Genetics, 2016

27093186 (PubMed )
Supplement: pgen.1005895.s019.xlsx › Sheet1

MBASED: allele-specific expression detection in cancer tissues and cell lines.

Mayba O et al.

Genome Biology, 2014

25315065 (PubMed )
Supplement: 13059_2014_405_MOESM3_ESM.xlsx › FunctionalSomaticMutations
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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."