Author

Ş. Avcı

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Aug 2026

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

An algorithm-driven approach integrating PMP22 CNV analysis with exome sequencing substantially improves diagnostic yield, reveals blended or digenic mechanisms, and helps distinguish non-CMT phenocopies.

Ş. Avcı, Serpil Eraslan, Gulshan Yunisova et al. · Clinical Genetics · 0 citations