Varaico: Literature-Extracted Genetic Variants

Gene:EGF
Variant:p.N284Y
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EGF

NM_001963.6:p.N284Y

Associated Papers

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

Rodger C et al.

American Journal of Human Genetics, 2020

33186545 (PubMed )
Supplement: mmc2.pdf
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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."