Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.R547*
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EYA1

NM_000503.6:p.R547*

Associated Papers

Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.

Werfel L et al.

Kidney International Reports, 2023

38025229 (PubMed )
Supplement: mmc1.pdf
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