Varaico: Literature-Extracted Genetic Variants

Gene:SVIL
Variant:p.V189A
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SVIL

NM_021738.3:p.V189A

Associated Papers

Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Chen M et al.

Signal Transduction and Targeted Therapy, 2022

34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P8944-S3

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.

Janicki PK et al.

Molecular Medicine Reports, 2019

30816480 (PubMed )
Supplement: supplement_2.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."