Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I488M
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CFTR

NM_000492.4:p.I488M

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

[The mutation spectrum of the CFTR gene in mucoviscidosis patients from Bashkortostan].

Korytina GF et al.

Molekuliarnaia Biologiia, 0

[Genomic structure and DNA diagnosis of hereditary monogenic diseases in the Volga-Ural region].

Khidiiatova IM et al.

Molekuliarnaia Biologiia, 0

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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."