Varaico: Literature-Extracted Genetic Variants

Gene:POTEH
Variant:p.A183T
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POTEH

NM_001136213.1:p.A183T

Associated Papers

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.

Bruno LP et al.

International Journal of Molecular Sciences, 2021

34948243 (PubMed )
Supplement: ijms-22-13439-s001.zip › cartella_senza_titolo › Table_S3_Molecular_information_of_the_variants___2_.xlsx › Foglio1

The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.

Diplas BH et al.

Nature Communications, 2018

29802247 (PubMed )
Supplement: 41467_2018_4448_MOESM11_ESM.xlsx › 8_SNV_WGS

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S3_HCC-3_coding_SNVs
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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."