Varaico: Literature-Extracted Genetic Variants

Gene:KLHL7
Variant:p.F83fs
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KLHL7

NM_001031710.3:p.F83fs

Associated Papers

A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features.

Cheraghi S et al.

European Journal of Medical Genetics, 2020

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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."