Varaico: Literature-Extracted Genetic Variants

Gene:ARF1
Variant:p.P131R
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ARF1

NM_001658.4:p.P131R

Associated Papers

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

Hennick K et al.

Biorxiv : the Preprint Server for Biology, 2025

40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs

Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.

Ishiguro T et al.

Journal of Biochemistry, 2024

Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.

Amezquita J et al.

Biorxiv : the Preprint Server for Biology, 2023

38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants

ARF1-related disorder: phenotypic and molecular spectrum.

de Sainte Agathe JM et al.

Journal of Medical Genetics, 2023

Integrated analysis of canine soft tissue sarcomas identifies recurrent mutations in TP53, KMT genes and PDGFB fusions.

Das S et al.

Scientific Reports, 2023

37369741 (PubMed )
Supplement: 41598_2023_37266_MOESM2_ESM.xlsx › Table_S5
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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."