Varaico: Literature-Extracted Genetic Variants

Gene:KLHL3
Variant:p.F322C
Back to variants list

KLHL3

NM_017415.3:p.F322C

Associated Papers

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

Etges A et al.

Nephron, 2022

Kelch-like proteins: Physiological functions and relationships with diseases.

Shi X et al.

Pharmacological Research, 2019

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

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

Boyden LM et al.

Nature, 2012

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

Louis-Dit-Picard H et al.

Medecine Sciences : M/s, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."