Varaico: Literature-Extracted Genetic Variants

Gene:KLHL3
Variant:p.M78T
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KLHL3

NM_017415.3:p.M78T

Associated Papers

The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension.

Hureaux M et al.

Kidney International Reports, 2021

34622103 (PubMed )
Supplement: mmc1.pdf

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.

Hureaux M et al.

Kidney International, 2019

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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."