Varaico: Literature-Extracted Genetic Variants

Gene:CPSF1
Variant:p.S941_G942delFs
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CPSF1

NM_013291.3:p.S941_G942delFs

Associated Papers

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.

Wang Y et al.

The British Journal of Ophthalmology, 2023

36180177 (PubMed )
Supplement: bjo-2022-321511supp006.pdf

Exome Sequencing in Individuals with Isolated Biliary Atresia.

Rajagopalan R et al.

Scientific Reports, 2020

An overview of myopia genetics.

Cai XB et al.

Experimental Eye Research, 2019

CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.

Ouyang J et al.

Human Molecular Genetics, 2019

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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."