Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.G533Splc
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EYA1

NM_000503.6:p.G533Splc

Associated Papers

Prenatal Phenotypic Analysis of Branchio-Oto-Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review.

Tian Y et al.

Prenatal Diagnosis, 2024

EYA protein complex is required for Wntless retrograde trafficking from endosomes to Golgi.

Reshi HA et al.

Developmental Cell, 2024

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2

A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application.

Chen A et al.

Clinical and Experimental Otorhinolaryngology, 2023

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

EYA1-related disorders: two clinical cases and a literature review.

Castiglione A et al.

International Journal of Pediatric Otorhinolaryngology, 2014

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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."