Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63C
Variant:p.N547fs
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TMEM63C

NM_020431.4:p.N547fs

Associated Papers

TMEM63 mechanosensitive ion channels: Activation mechanisms, biological functions and human genetic disorders.

Chen X et al.

Biochemical and Biophysical Research Communications, 2023

Correction to: TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.

Unknown Author

Brain : a Journal of Neurology, 2022

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.

Tábara LC et al.

Brain : a Journal of Neurology, 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."