Varaico: Literature-Extracted Genetic Variants

Gene:EYA3
Variant:p.N358S
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EYA3

NM_001990.4:p.N358S

Associated Papers

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

Reshi HA et al.

Developmental Cell, 2024

Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance.

Si N et al.

Frontiers of Medicine, 2023

The Eyes Absent proteins in development and in developmental disorders.

Soni UK et al.

Biochemical Society Transactions, 2021

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.

Tingaud-Sequeira A et al.

Human Genetics, 2021

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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."