Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.H2665L
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VCAN

NM_004385.5:p.H2665L

Associated Papers

Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy.

Li H et al.

Ophthalmic Genetics, 2020

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.

Salvatore M et al.

Italian Journal of Pediatrics, 2020

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.

Bigoni S et al.

Frontiers in Genetics, 2018

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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."