Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.R99L
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PEX6

NM_000287.4:p.R99L

Associated Papers

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

Tucker EJ et al.

Human Genetics, 2020

Expanding the clinical and genetic spectrum of Heimler syndrome.

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2019

Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.

Schieferdecker A et al.

International Journal of Molecular Sciences, 2019

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.

Wangtiraumnuay N et al.

Ophthalmic Genetics, 2018

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Smith CE et al.

European Journal of Human Genetics : Ejhg, 2016

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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."