2025
DOI: 10.1016/j.braindev.2024.104313
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Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review

Cüneyd Yavas,
Mustafa Dogan,
Bilge Ozgor
et al.
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