Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.A299V
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MFSD8

NM_001371596.2:p.A299V

Associated Papers

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Santorelli FM et al.

Orphanet Journal of Rare Diseases, 2013

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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."