Varaico: Literature-Extracted Genetic Variants

Gene:PHRF1
Variant:p.S754_H756insFs
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PHRF1

NM_001286581.2:p.S754_H756insFs

Associated Papers

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Drost M et al.

Hgg Advances, 2026

40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S1
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