Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70
Variant:p.V36fs
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TMEM70

NM_017866.6:p.V36fs

Associated Papers

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.

Staretz-Chacham O et al.

American Journal of Medical Genetics. Part A, 2019

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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."