Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.T299P
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EYA4

NM_004100.5:p.T299P

Associated Papers

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.

Meinke P et al.

Ebiomedicine, 2020

31862442 (PubMed )
Supplement: mmc1.xlsx › Family_Sequencing

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

Kondelin J et al.

Embo Molecular Medicine, 2018

30108113 (PubMed )
Supplement: EMMM-10-e8552-s004.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."