Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A2
Variant:p.V314M
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SLC52A2

NM_001363118.2:p.V314M

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

Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.

Sabeghi D et al.

Acta Neurologica Belgica, 2024

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