Varaico: Literature-Extracted Genetic Variants

Gene:SIGMAR1
Variant:p.A185P
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SIGMAR1

NM_005866.4:p.A185P

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.

Pensato V et al.

Journal of Clinical Medicine, 2020

32028661 (PubMed )
Supplement: jcm-09-00412-s001.pdf
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