Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.E241fs
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AQP2

NM_000486.6:p.E241fs

Associated Papers

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Schon KR et al.

Bmj (clinical Research Ed.), 2021

Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.

Liao P et al.

Frontiers in Pediatrics, 2021

33996673 (PubMed )
Supplement: Data_Sheet_1.pdf
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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."