Varaico: Literature-Extracted Genetic Variants

Gene:MADD
Variant:p.V306fs
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MADD

NM_001376571.1:p.V306fs

Associated Papers

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

Schneeberger PE et al.

Brain : a Journal of Neurology, 2020

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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."