Concepedia

Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells

Juliette Pulman, Benedetta Ruzzenente, Martin Hořák, Giulia Barcia, Nathalie Boddaert, Arnold Münnich, Agnès Rötig, Metodi D. Metodiev

Molecular Genetics and Metabolism · 2021 · 13 citations · 25 references

DOI

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References

25

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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UniProt: a worldwide hub of protein knowledge

Nucleic Acids Research · 2018 · 8.4K citations · Full text

, , +14

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch et al. · Genome Medicine · 2019 · 621 citations · Full text

, , +13

Global Analysis of the Mitochondrial N-Proteome Identifies a Processing Peptidase Critical for Protein Stability

F.‐Nora Vögtle, Stefanie Wortelkamp, René P. Zahedi et al. · Cell · 2009 · 565 citations · Full text

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Cleavage-site motifs in mitochondrial targeting peptides

Ylva Gavel, Gunnar von Heijne · Protein Engineering Design and Selection · 1990 · 327 citations

, , +17