Varaico: Literature-Extracted Genetic Variants

Gene:KLHL4
Variant:p.I287V
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KLHL4

NM_019117.5:p.I287V

Associated Papers

A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.

Asmar AJ et al.

Nature Communications, 2023

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.

Otsuji S et al.

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."