Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.G466S
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PAX7

NM_001135254.2:p.G466S

Associated Papers

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

Ganassi M et al.

Cell Death & Disease, 2026

41611663 (PubMed )
Supplement: 41419_2025_8358_MOESM7_ESM.xlsx › Sheet1

MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.

Gajera M et al.

Bmc Medical Genomics, 2019

31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 4_Human_Cleft_Lip__Table_S4__Significant_R2.xlsx › Multiple_Genes_Significant

Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.

Butali A et al.

American Journal of Medical Genetics. Part A, 2014

Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).

Butali A et al.

American Journal of Medical Genetics. Part A, 2013

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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."