Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG5
Variant:p.T609M
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PLEKHG5

NM_020631.6:p.T609M

Associated Papers

The RhoGEF protein Plekhg5 self-associates via its PH domain to regulate apical cell constriction.

Popov IK et al.

Molecular Biology of the Cell, 2024

Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.

Choi WJ et al.

Scientific Reports, 2024

38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3
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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."