Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G330fs
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CFTR

NM_000492.4:p.G330fs

Associated Papers

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

Sicko RJ et al.

International Journal of Neonatal Screening, 2021

34842611 (PubMed )
Supplement: IJNS-07-00073-s001.zip › Sicko_et_al__NYS_CF_NGS_Panel_Supplemental_Table_S2.pdf
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