Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.C30*
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SCNN1B

NM_000336.3:p.C30*

Associated Papers

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.

Cope HL et al.

Nature Medicine, 2025

40913169 (PubMed )
Supplement: 41591_2025_3945_MOESM3_ESM.xlsx › Sheet1
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