Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.F478_L479delFs
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MTM1

NM_000252.3:p.F478_L479delFs

Associated Papers

Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.

Kušíková K et al.

Genes, 2023

38136996 (PubMed )
Supplement: genes-14-02174-s001.zip › Supplementary_table_proofreading.xlsx › Cohort_by_one
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