Varaico: Literature-Extracted Genetic Variants

Gene:KLHL17
Variant:p.L239P
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KLHL17

NM_198317.3:p.L239P

Associated Papers

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

Asmar AJ et al.

Nature Communications, 2023

37495603 (PubMed )
Supplement: 41467_2023_40223_MOESM4_ESM.xlsx › Sheet1

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex
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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."