Varaico: Literature-Extracted Genetic Variants

Gene:CREB3L2
Variant:p.R299_K301del3
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CREB3L2

NM_194071.4:p.R299_K301del3

Associated Papers

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Skowron MA et al.

Scientific Reports, 2019

31597922 (PubMed )
Supplement: 41598_2019_50891_MOESM12_ESM.xlsx › Unique_in_253J-LTT

Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.

Zhou QH et al.

Cell Death & Disease, 2018

29880898 (PubMed )
Supplement: 41419_2018_736_MOESM7_ESM.xlsx › Sheet1

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Bhattacharya S et al.

Genome Research, 2018

29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic
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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."