Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.G412S
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PAX7

NM_001135254.2:p.G412S

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

Whole-Genome DNA Methylation Profiling of Intrahepatic Cholangiocarcinoma Reveals Prognostic Subtypes with Distinct Biological Drivers.

Liao H et al.

Cancer Research, 2024

38471085 (PubMed )
Supplement: can-23-3298_supplementary_tables_suppst1-11.xlsx › Supplementary_Table_S8

Multimodule characterization of immune subgroups in intrahepatic cholangiocarcinoma reveals distinct therapeutic vulnerabilities.

Lin J et al.

Journal for Immunotherapy of Cancer, 2022

35863823 (PubMed )
Supplement: jitc-2022-004892supp008.xlsx › 1._WES_mutations

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."