Varaico: Literature-Extracted Genetic Variants

Gene:SEMA4A
Variant:p.A340G
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SEMA4A

NM_022367.4:p.A340G

Associated Papers

Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants.

Hanany M et al.

Journal of Medical Genetics, 2019

Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.

Tajiguli A et al.

Scientific Reports, 2016

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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."