Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R31P
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CFTR

NM_000492.4:p.R31P

Associated Papers

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Rodriguez-Flores JL et al.

Npj Genomic Medicine, 2022

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

Weber S et al.

Kidney International, 2004

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.

Roselli S et al.

Traffic (copenhagen, Denmark), 2004

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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."