Varaico: Literature-Extracted Genetic Variants

Gene:IVD
Variant:p.Q48_L49Splc
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IVD

NM_002225.5:p.Q48_L49Splc

Associated Papers

Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

de Koning MA et al.

European Journal of Human Genetics : Ejhg, 2025

40841822 (PubMed )
Supplement: 41431_2025_1924_MOESM1_ESM.xlsx › Supplementary_Table_1
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