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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC26A5

Variant:p.S478F

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SLC26A5

NM_198999.3:p.S478F

hg38:chr7:103389089 G>A

Associated Papers

The co-inheritance of two ITGB3 variants with additive detrimental effects on platelets leads to variant Glanzmann thrombasthenia.

Arndt N et al.

Haematologica, 2025

40994361 (PubMed )

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