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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELP4

Variant:p.G51A

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ELP4

NM_019040.5:p.G51A

hg38:chr11:31509936 G>C

Associated Papers

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.

Lima Cunha D et al.

Genes, 2019

31861090 (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."