Varaico: Literature-Extracted Genetic Variants

Gene:CHMP3
Variant:p.T173I
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CHMP3

NM_016079.4:p.T173I

Associated Papers

A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.

Cohen-Barak E et al.

Journal of Medical Genetics, 2023

Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.

Nakhleh Francis Y et al.

Genetics in Medicine Open, 2023

39669259 (PubMed )
Supplement: mmc1.xlsx › ______1

Comprehensive analysis of the human ESCRT-III-MIT domain interactome reveals new cofactors for cytokinetic abscission.

Wenzel DM et al.

Elife, 2022

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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."