Varaico: Literature-Extracted Genetic Variants

Gene:KLHL40
Variant:p.K273*
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KLHL40

NM_152393.4:p.K273*

Associated Papers

KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.

Buchignani B et al.

Genes, 2024

38397198 (PubMed )
Supplement: genes-15-00208-s001.zip › genes-2850554-supplementary.pdf

Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy.

Yu QX et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024

Whole exome sequencing improves genetic diagnosis of fetal clubfoot.

Huang R et al.

Human Genetics, 2023

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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."