Varaico: Literature-Extracted Genetic Variants

Gene:CTBP2
Variant:p.Q445*
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CTBP2

NM_001329.4:p.Q445*

Associated Papers

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Marinakis NM et al.

Clinical Genetics, 2026

40550703 (PubMed )
Supplement: CGE-109-176-s001.xlsx › Transcripts

Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Chen M et al.

Signal Transduction and Targeted Therapy, 2022

34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P8944-S3

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SVII_Simulated__Interbreeding_Men_Neand.pdf

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Supplementary_Table_2

Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.

Chu G et al.

Cancer Medicine, 2019

30977266 (PubMed )
Supplement: CAM4-8-1996-s001.pdf

The genetic landscape of benign thyroid nodules revealed by whole exome and transcriptome sequencing.

Ye L et al.

Nature Communications, 2017

28580939 (PubMed )
Supplement: ncomms15533-s4.xlsx › mutation_list

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

28076423 (PubMed )
Supplement: pone.0167581.s003.xlsx › Egyptian-specific
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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."