Varaico: Literature-Extracted Genetic Variants

Gene:MADD
Variant:p.V306M
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MADD

NM_001376571.1:p.V306M

Associated Papers

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

Bosch AM et al.

Orphanet Journal of Rare Diseases, 2012

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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."