Varaico: Literature-Extracted Genetic Variants

Gene:RFX6
Variant:p.R385*
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RFX6

NM_173560.4:p.R385*

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Intratumor heterogeneity and clonal evolution revealed in castration-resistant prostate cancer by longitudinal genomic analysis.

Zhang W et al.

Translational Oncology, 2022

34902740 (PubMed )
Supplement: mmc5.xlsx › S_Table3.1_Mutations

Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6.

Kambal MA et al.

Frontiers in Pediatrics, 2019

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

Khan N et al.

Journal of Clinical Research in Pediatric Endocrinology, 2016

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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."