Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.E41K
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EYA1

NM_000503.6:p.E41K

Associated Papers

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

Taylan Şekeroğlu H et al.

Turkish Journal of Ophthalmology, 2021

Patient-derived oral mucosa organoids as an in vitro model for methotrexate induced toxicity in pediatric acute lymphoblastic leukemia.

Driehuis E et al.

Plos One, 2020

32421698 (PubMed )
Supplement: pone.0231588.s007.xlsx › N2

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Reis LM et al.

Human Genetics, 2013

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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."