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N. B. Acikgoz

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Jul 2026

A synonymous NPR2 variant causes acromesomelic dysplasia through aberrant pre-mRNA splicing.

A homozygous synonymous NPR2 variant is identified in an individual with AMDM and aberrant splicing induced by a synonymous variant as a disease-causing mechanism affecting a core developmental signaling pathway is established.

N. B. Acikgoz, Hasan Basri Kılıç, Gizem Urel Demir et al. · 0 citations