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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPEF2

Variant:p.S557L

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PPEF2

NM_006239.3:p.S557L

hg38:chr4:75867399 G>A

Associated Papers

Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.

Borràs E et al.

Clinical Genetics, 2013

23534816 (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."