Varaico: Literature-Extracted Genetic Variants

Gene:KLHL15
Variant:p.Y394fs
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KLHL15

NM_030624.3:p.Y394fs

Associated Papers

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

Kido J et al.

Human Genome Variation, 2023

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H et al.

Molecular Psychiatry, 2016

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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."