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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KLHL15

Variant:p.L540Q

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KLHL15

NM_030624.3:p.L540Q

hg38:chrX:23988117 A>T

Associated Papers

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

Caswell RC et al.

European Journal of Medical Genetics, 2023

37059329 (PubMed )

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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."