Varaico: Literature-Extracted Genetic Variants

Gene:SALL4
Variant:p.R573*
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SALL4

NM_020436.5:p.R573*

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

SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.

Kodytková A et al.

Hormone Research in Paediatrics, 2024

Analysis of children with familial short stature: who should be indicated for genetic testing?

Plachy L et al.

Endocrine Connections, 2023

37561071 (PubMed )
Supplement: supplementary_table_2.pdf

A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome.

Ma X et al.

Molecular Medicine Reports, 2022

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