Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.D318N
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EYA1

NM_000503.6:p.D318N

Associated Papers

Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Kim TM et al.

Bmc Cancer, 2020

33287735 (PubMed )
Supplement: 12885_2020_7684_MOESM2_ESM.xlsx › Sheet1

A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome.

Li G et al.

Intractable & Rare Diseases Research, 2018

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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."