Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.L981delFs
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MERTK

NM_006343.3:p.L981delFs

Associated Papers

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).

Skorczyk-Werner A et al.

Orphanet Journal of Rare Diseases, 2020

Leber congenital amaurosis: genes, proteins and disease mechanisms.

den Hollander AI et al.

Progress in Retinal and Eye Research, 2008

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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."