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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC9C2

Variant:p.P440insFs

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SLC9C2

NM_178527.4:p.P440insFs

hg38:chr1:173548532 G>GAA

Associated Papers

De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms.

Garrido-Rodríguez P et al.

Haematologica, 2026

41609023 (PubMed )

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