Varaico: Literature-Extracted Genetic Variants

Gene:CTDSP2
Variant:p.T111N
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CTDSP2

NM_005730.4:p.T111N

Associated Papers

ctdsp2 Knockout Induces Zebrafish Craniofacial Dysplasia via p53 Signaling Activation.

Xia X et al.

International Journal of Molecular Sciences, 2025

Whole-exome sequencing analysis to identify novel potential pathogenetic mutations in fetuses with abnormal brain structure.

Shi L et al.

Annals of Translational Medicine, 2021

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Kumar K et al.

Bmc Medical Genetics, 2020

32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1

Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Friedman D et al.

Npj Genomic Medicine, 2018

29619247 (PubMed )
Supplement: 41525_2018_48_MOESM2_ESM.xlsx › Sheet1
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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."