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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UFM1

Variant:p.R93Q

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UFM1

NM_001286704.2:p.R93Q

hg38:chr13:38360744 G>A

Associated Papers

Corrigendum: Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.

Veronese A et al.

Neuropediatrics, 2025

39821785 (PubMed )

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