Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.L36P
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SPINK1

NM_001379610.1:p.L36P

Associated Papers

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.

Wu H et al.

Human Genomics, 2024

38414044 (PubMed )
Supplement: 40246_2024_586_MOESM1_ESM.xlsx › Feuil1
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