Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E1470*
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CFTR

NM_000492.4:p.E1470*

Associated Papers

Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.

Shum BOV et al.

Clinical Chemistry, 2023

The inequity of targeted cystic fibrosis reproductive carrier screening tests in Australia.

Shum BOV et al.

Prenatal Diagnosis, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."