Varaico: Literature-Extracted Genetic Variants

Gene:ELAPOR1
Variant:p.I86V
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ELAPOR1

NM_020775.5:p.I86V

Associated Papers

Cellular and genetic drivers of RNA editing variation in the human brain.

Cuddleston WH et al.

Nature Communications, 2022

35637184 (PubMed )
Supplement: 41467_2022_30531_MOESM8_ESM.xlsx › Putative_novel_recoding_events

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary

Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.

Shrestha R et al.

Cancer Research, 2021

33441310 (PubMed )
Supplement: can-20-2222_supplemental_st1-st14_suppst1-st14.xlsx › S3

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Nasuno T et al.

Cancer Science, 2014

24219164 (PubMed )
Supplement: cas0105-0202-SD2.xlsx › TE1

Pooled DNA resequencing of 68 myocardial infarction candidate genes in French canadians.

Beaudoin M et al.

Circulation. Cardiovascular Genetics, 2012

22923420 (PubMed )
Supplement: 963165_supplemental_material.pdf
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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."