Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.F478S
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MTM1

NM_000252.3:p.F478S

Associated Papers

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

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

Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.

Penon M et al.

Molecular Genetics & Genomic Medicine, 2018

30047259 (PubMed )
Supplement: MGG3-6-722-s002.xlsx › Helices_and_beta_sheets_clinvar
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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."