Varaico: Literature-Extracted Genetic Variants

Gene:FGD1
Variant:p.C756fs
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FGD1

NM_004463.3:p.C756fs

Associated Papers

Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.

Bayat A et al.

American Journal of Medical Genetics. Part A, 2022

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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."