Varaico: Literature-Extracted Genetic Variants

Gene:MYMK
Variant:p.I154T
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MYMK

NM_001080483.3:p.I154T

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome.

Dugdale HF et al.

Acta Neuropathologica Communications, 2024

Molecular regulation of myocyte fusion.

Wherley TJ et al.

Current Topics in Developmental Biology, 2024

Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.

Hedberg-Oldfors C et al.

Neurology. Genetics, 2018

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia SA et al.

Nature Communications, 2017

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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."