Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.L2557*
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CEP295

NM_033395.2:p.L2557*

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Characterization of the genomic alterations in poorly differentiated thyroid cancer.

Lee Y et al.

Scientific Reports, 2023

37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P08

Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.

Li R et al.

Nature Communications, 2021

34145257 (PubMed )
Supplement: 41467_2021_24043_MOESM5_ESM.xlsx › Sheet1

Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Kim TM et al.

Bmc Cancer, 2020

33287735 (PubMed )
Supplement: 12885_2020_7684_MOESM2_ESM.xlsx › Sheet1
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