Varaico: Literature-Extracted Genetic Variants

Gene:MASP2
Variant:p.K78_L79Splc
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MASP2

NM_006610.4:p.K78_L79Splc

Associated Papers

A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.

Gotkine M et al.

Neurobiology of Aging, 2021

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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."