Varaico: Literature-Extracted Genetic Variants

Gene:BIRC2
Variant:p.K516E
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BIRC2

NM_001166.5:p.K516E

Associated Papers

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_1__manuscript_supplementary_material_.xlsx › Variant_details

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.

Azzarà A et al.

Plos One, 2022

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.

Andreoletti G et al.

Scientific Reports, 2017

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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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."