Varaico: Literature-Extracted Genetic Variants

Gene:AIFM1
Variant:p.M171I
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AIFM1

NM_004208.4:p.M171I

Associated Papers

Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Ruiz-Pesini E et al.

Genes, 2021

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.

Moss T et al.

Cold Spring Harbor Molecular Case Studies, 2021

High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.

Wang H et al.

Neural Plasticity, 2020

A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4.

Wang B et al.

Neuromuscular Disorders : Nmd, 2018

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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."