Varaico: Literature-Extracted Genetic Variants

Gene:KLHL3
Variant:p.P426L
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KLHL3

NM_017415.3:p.P426L

Associated Papers

Kelch-like protein 3 in human disease and therapy.

Lin Y et al.

Molecular Biology Reports, 2022

A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life.

Etges A et al.

Nephron, 2022

APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Roper N et al.

Cell Reports, 2019

30840888 (PubMed )
Supplement: NIHMS1523294-supplement-6.xlsx › RA004

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

Glover M et al.

Clinical Science (london, England : 1979), 2014

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.

Louis-Dit-Picard H et al.

Nature Genetics, 2012

[KLHL3 and CULLIN-3: new genes involved in familial hypertension].

Louis-Dit-Picard H et al.

Medecine Sciences : M/s, 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."