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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOP58

Variant:p.L172L

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NOP58

NM_015934.5:p.L172L

hg38:chr2:202290339 G>A

Associated Papers

A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs.

Bonde LD et al.

Hgg Advances, 2026

41383020 (PubMed )

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