Varaico: Literature-Extracted Genetic Variants

Gene:CCBE1
Variant:p.R125W
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CCBE1

NM_133459.4:p.R125W

Associated Papers

Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.

Shinwari K et al.

Thescientificworldjournal, 2021

Cystic Hygroma: A Preliminary Genetic Study and a Short Review from the Literature.

Noia G et al.

Lymphatic Research and Biology, 2019

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
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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."