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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EYA1

Variant:p.E590fs

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EYA1

NM_000503.6:p.E590fs

hg38:chr8:71199351 CTC>N

Associated Papers

Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.

Masuda M et al.

Scientific Reports, 2022

35046468 (PubMed )

Novel EYA1 variants causing Branchio-oto-renal syndrome.

Klingbeil KD et al.

International Journal of Pediatric Otorhinolaryngology, 2017

28583505 (PubMed )

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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."