Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.G412E
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ELN

NM_000501.4:p.G412E

Associated Papers

Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.

Mollin M et al.

Clinical and Experimental Immunology, 2021

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

Jones RP et al.

Investigative Ophthalmology & Visual Science, 2010

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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."