Varaico: Literature-Extracted Genetic Variants

Gene:SBF2
Variant:p.Y1594*
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SBF2

NM_030962.4:p.Y1594*

Associated Papers

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.

Cakar A et al.

European Journal of Neurology, 2025

39776111 (PubMed )
Supplement: ENE-32-e16572-s001.xlsx › Sheet1
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