Varaico: Literature-Extracted Genetic Variants

Gene:CEP250
Variant:p.R744W
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CEP250

NM_007186.6:p.R744W

Associated Papers

Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.

Tuncay IO et al.

Npj Genomic Medicine, 2025

41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1

Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.

Patowary A et al.

Translational Psychiatry, 2019

30664616 (PubMed )
Supplement: 41398_2018_343_MOESM3_ESM.xlsx › All_Variants

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Melloni GEM et al.

Breast Cancer Research : Bcr, 2017

28569218 (PubMed )
Supplement: 13058_2017_854_MOESM3_ESM.xlsx › Table_S7
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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."