Varaico: Literature-Extracted Genetic Variants

Gene:RSPO1
Variant:p.R31W
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RSPO1

NM_001242908.2:p.R31W

Associated Papers

Human RSPO1 Mutation Represses Beige Adipocyte Thermogenesis and Contributes to Diet-Induced Adiposity.

Sun Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2023

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM5_ESM.xlsx › Paired_GBC_Mutations

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

32368696 (PubMed )
Supplement: mmc3.xlsx › Cases

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
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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."