Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.F1473insFs
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NIPBL

NM_133433.4:p.F1473insFs

Associated Papers

Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort.

Hoang TL et al.

Diagnostics (basel, Switzerland), 2025

41300846 (PubMed )
Supplement: diagnostics-15-02821-s001.zip › Supplementary_Table_S1.pdf
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