Varaico: Literature-Extracted Genetic Variants

Gene:MACROD2
Variant:p.T58I
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MACROD2

NM_001351661.2:p.T58I

Associated Papers

PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.

Raj A et al.

Computational and Structural Biotechnology Journal, 2024

38292474 (PubMed )
Supplement: mmc3.xlsx › AD_DiseaseAnnotation

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

MACROD2 Haploinsufficiency Impairs Catalytic Activity of PARP1 and Promotes Chromosome Instability and Growth of Intestinal Tumors.

Sakthianandeswaren A et al.

Cancer Discovery, 2018

Phenotypic and pharmacogenetic evaluation of patients with thiazide-induced hyponatremia.

Ware JS et al.

The Journal of Clinical Investigation, 2017

28783044 (PubMed )
Supplement: jci-127-89812-s001.pdf

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.

Kuniba H et al.

Journal of Medical Genetics, 2008

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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."