Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.L136_V137del2
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MFSD8

NM_001371596.2:p.L136_V137del2

Associated Papers

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.

Pasquetti D et al.

Genes, 2023

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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."