Varaico: Literature-Extracted Genetic Variants

Gene:MADD
Variant:p.R766*
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MADD

NM_001376571.1:p.R766*

Associated Papers

Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.

Willems SM et al.

Wellcome Open Research, 2023

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1

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_S1.xlsx › TSG

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Flannick J et al.

Nature, 2019

31118516 (PubMed )
Supplement: 41586_2019_1231_MOESM1_ESM.pdf

Rare and low-frequency variants in human common diseases and other complex traits.

Lettre G

Journal of Medical Genetics, 2014

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion.

Huyghe JR et al.

Nature Genetics, 2013

Novel insights into breast cancer genetic variance through RNA sequencing.

Horvath A et al.

Scientific Reports, 2013

Exome sequencing in a family segregating for celiac disease.

Szperl AM et al.

Clinical Genetics, 2011

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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."