Varaico: Literature-Extracted Genetic Variants

Gene:ADGRV1
Variant:p.S1982insFs
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ADGRV1

NM_032119.4:p.S1982insFs

Associated Papers

Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country.

Pataccini G et al.

Scientific Reports, 2025

39827242 (PubMed )
Supplement: 41598_2025_86389_MOESM2_ESM.xlsx › Sheet1

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

Mansard L et al.

International Journal of Molecular Sciences, 2021

34948090 (PubMed )
Supplement: ijms-22-13294-s001.zip › supplementary_tables › TableS2.xlsx › Feuil1

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Zenteno JC et al.

Molecular Genetics & Genomic Medicine, 2020

31736247 (PubMed )
Supplement: MGG3-8-0-s001.pdf

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.

Fuster-García C et al.

Scientific Reports, 2018

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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."