Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG5
Variant:p.E721delFs
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PLEKHG5

NM_020631.6:p.E721delFs

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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