Varaico: Literature-Extracted Genetic Variants

Gene:CPSF4
Variant:p.P125delFs
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CPSF4

NM_006693.4:p.P125delFs

Associated Papers

Dominant inherited β-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.

Novak W et al.

Pediatric Blood & Cancer, 2023

37353956 (PubMed )
Supplement: supplement_1.docx
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