Varaico: Literature-Extracted Genetic Variants

Gene:CEP164
Variant:p.T988S
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CEP164

NM_014956.5:p.T988S

Associated Papers

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

Structural validation and assessment of AlphaFold2 predictions for centrosomal and centriolar proteins and their complexes.

van Breugel M et al.

Communications Biology, 2022

Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.

Rosa E Silva I et al.

Structure (london, England : 1993), 2022

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Xing D et al.

Bmc Ophthalmology, 2020

33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData

Identification of three genetic variants as novel susceptibility loci for body mass index in a Japanese population.

Yasukochi Y et al.

Physiological Genomics, 2018

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
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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."