Varaico: Literature-Extracted Genetic Variants

Gene:KLHL9
Variant:p.L95F
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KLHL9

NM_018847.4:p.L95F

Associated Papers

KLHL9-linked distal myopathy: a second family suggesting broad phenotypic variability.

Izumi R et al.

Neuromuscular Disorders : Nmd, 2025

The Cullin3-Rbx1-KLHL9 E3 ubiquitin ligase complex ubiquitinates Rheb and supports amino acid-induced mTORC1 activation.

Yao Y et al.

Cell Reports, 2025

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

Shi X et al.

Pharmacological Research, 2019

Kelch proteins: emerging roles in skeletal muscle development and diseases.

Gupta VA et al.

Skeletal Muscle, 2014

Crystal structure of KLHL3 in complex with Cullin3.

Ji AX et al.

Plos One, 2013

Adaptor protein self-assembly drives the control of a cullin-RING ubiquitin ligase.

Errington WJ et al.

Structure (london, England : 1993), 2012

UNC-89 (obscurin) binds to MEL-26, a BTB-domain protein, and affects the function of MEI-1 (katanin) in striated muscle of Caenorhabditis elegans.

Wilson KJ et al.

Molecular Biology of the Cell, 2012

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.

Cirak S et al.

Brain : a Journal of Neurology, 2010

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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."