Varaico: Literature-Extracted Genetic Variants

Gene:RFX6
Variant:p.E224_G225Splc
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RFX6

NM_173560.4:p.E224_G225Splc

Associated Papers

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

Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.

Concepcion JP et al.

Pediatric Diabetes, 2014

Rfx6 directs islet formation and insulin production in mice and humans.

Smith SB et al.

Nature, 2010

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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."