Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG5
Variant:p.E717*
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PLEKHG5

NM_020631.6:p.E717*

Associated Papers

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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