Varaico: Literature-Extracted Genetic Variants

Gene:ARL13B
Variant:p.R209C
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ARL13B

NM_001174150.2:p.R209C

Associated Papers

Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis.

Huang KC et al.

Stem Cell Reports, 2019

31668851 (PubMed )
Supplement: mmc7.pdf

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

Kondelin J et al.

Embo Molecular Medicine, 2018

30108113 (PubMed )
Supplement: EMMM-10-e8552-s004.xlsx › Sheet1

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG et al.

Journal of Medical Genetics, 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."