Varaico: Literature-Extracted Genetic Variants

Gene:SALL1
Variant:p.E501_K502delFs
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SALL1

NM_002968.3:p.E501_K502delFs

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

40348827 (PubMed )
Supplement: 41431_2025_1855_MOESM2_ESM.xlsx › Table_3

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.

Yan X et al.

Journal of Medical Genetics, 2024

38296632 (PubMed )
Supplement: jmg-2023-109579supp006.pdf
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