Varaico: Literature-Extracted Genetic Variants

Gene:EYA2
Variant:p.L197P
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EYA2

NM_005244.5:p.L197P

Associated Papers

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

Vig A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32753734 (PubMed )
Supplement: 41436_2020_915_MOESM1_ESM.pdf
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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."