Varaico: Literature-Extracted Genetic Variants

Gene:CNEP1R1
Variant:p.K57_V58Splc
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CNEP1R1

NM_001281789.2:p.K57_V58Splc

Associated Papers

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.

Oh RY et al.

Hgg Advances, 2024

38659227 (PubMed )
Supplement: mmc2.xlsx › Table_S2
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