Varaico: Literature-Extracted Genetic Variants

Gene:CEP55
Variant:p.C236R
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CEP55

NM_018131.5:p.C236R

Associated Papers

Expanding the spectrum of CEP55-associated disease to viable phenotypes.

Barrie ES et al.

American Journal of Medical Genetics. Part A, 2020

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets
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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."