Varaico: Literature-Extracted Genetic Variants

Gene:SALL1
Variant:p.Q237*
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SALL1

NM_002968.3:p.Q237*

Associated Papers

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.

Leduc F et al.

European Journal of Human Genetics : Ejhg, 2025

A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.

Liu X et al.

Nephrology (carlton, Vic.), 2024

Townes-Brocks syndrome with craniosynostosis in two siblings.

Lugli L et al.

European Journal of Medical Genetics, 2022

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