Varaico: Literature-Extracted Genetic Variants

Gene:NADSYN1
Variant:p.Q204H
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NADSYN1

NM_018161.5:p.Q204H

Associated Papers

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

Genetic modifiers of long-term survival in sickle cell anemia.

Wonkam A et al.

Clinical and Translational Medicine, 2020

32898326 (PubMed )
Supplement: CTM2-10-e152-s001.pdf

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.

Alkhiary YM et al.

Saudi Journal of Biological Sciences, 2016

27579005 (PubMed )
Supplement: mmc1.xlsx › 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."