Varaico: Literature-Extracted Genetic Variants

Gene:SALL4
Variant:p.V181insFs
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SALL4

NM_020436.5:p.V181insFs

Associated Papers

Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses.

Zhang N et al.

Genes, 2026

41751559 (PubMed )
Supplement: genes-17-00176-s001.zip › Supplementary_File_S2.xlsx › Sheet1

A de novo SALL4 mutation causes unilateral renal agenesis by misregulating genes involved in kidney development.

Zhao R et al.

Orphanet Journal of Rare Diseases, 2025

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