Varaico: Literature-Extracted Genetic Variants

Gene:SALL4
Variant:p.Q238*
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SALL4

NM_020436.5:p.Q238*

Associated Papers

Identification of a novel SALL4 variant associated with unilateral renal agenesis and right renal pelvis duplication by prenatal exome sequencing: a case report.

Zhao T et al.

Frontiers in Pediatrics, 2025

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.

Ajam-Hosseini M et al.

Bmc Medical Genomics, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."