Varaico: Literature-Extracted Genetic Variants

Gene:KLHL7
Variant:p.S315delFs
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KLHL7

NM_001031710.3:p.S315delFs

Associated Papers

PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.

Makay P et al.

American Journal of Medical Genetics. Part A, 2022

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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."