Varaico: Literature-Extracted Genetic Variants

Gene:FRYL
Variant:p.V408delFs
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FRYL

NM_015030.2:p.V408delFs

Associated Papers

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Pan X et al.

American Journal of Human Genetics, 2024

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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."