Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF5
Variant:p.S83P
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ARHGEF5

NM_005435.4:p.S83P

Associated Papers

Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?

Kingma SDK et al.

Jimd Reports, 2021

Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice.

Nasonkin IO et al.

Human Molecular Genetics, 2004

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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."