Varaico: Literature-Extracted Genetic Variants

Gene:KLHL12
Variant:p.L227P
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KLHL12

NM_021633.4:p.L227P

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

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1
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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."