Varaico: Literature-Extracted Genetic Variants

Gene:MKLN1
Variant:p.L196Q
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MKLN1

NM_013255.5:p.L196Q

Associated Papers

RanBP9 controls the oligomeric state of CTLH complex assemblies.

van Gen Hassend PM et al.

The Journal of Biological Chemistry, 2023

36621627 (PubMed )
Supplement: mmc2.pdf

The LisH motif of muskelin is crucial for oligomerization and governs intracellular localization.

Delto CF et al.

Structure (london, England : 1993), 2015

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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."