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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EYA1

Variant:p.Q177R

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EYA1

NM_000503.6:p.Q177R

hg38:chr8:71317578 T>C

Associated Papers

Characterization of CTNS mutations in Arab patients with cystinosis.

Aldahmesh MA et al.

Ophthalmic Genetics, 2009

19852576 (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."