Varaico: Literature-Extracted Genetic Variants

Gene:KLHL15
Variant:p.R532del1
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KLHL15

NM_030624.3:p.R532del1

Associated Papers

X-linked intellectual disability related to a novel variant of KLHL15.

Kido J et al.

Human Genome Variation, 2023

Clinical findings and structural analysis involving a patient with a novel KLHL15 variant.

Caswell RC et al.

European Journal of Medical 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."