Varaico: Literature-Extracted Genetic Variants

Gene:MAGEE2
Variant:p.E120*
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MAGEE2

NM_138703.5:p.E120*

Associated Papers

A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null Mice.

Szpak M et al.

Molecular Biology and Evolution, 2021

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

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

Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.

Modi BP et al.

Bmc Medical Genetics, 2018

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Tarpey PS et al.

Nature Genetics, 2009

Human SNPs resulting in premature stop codons and protein truncation.

Savas S et al.

Human Genomics, 2006

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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."