Varaico: Literature-Extracted Genetic Variants

Gene:SALL4
Variant:p.R831Q
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SALL4

NM_020436.5:p.R831Q

Associated Papers

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

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Heidet L et al.

Journal of the American Society of Nephrology : Jasn, 2017

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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."