Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.W167R
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MME

NM_007289.4:p.W167R

Associated Papers

Clinical and molecular spectrum of an Iranian Charcot-Marie-Tooth 2T cohort, and the diagnostic importance of whole exome sequencing in identifying co-occurrence inherited disorders.

Salami Z et al.

Neuromuscular Disorders : Nmd, 2025

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
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