Varaico: Literature-Extracted Genetic Variants

Gene:SALL1
Variant:p.R757H
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SALL1

NM_002968.3:p.R757H

Associated Papers

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-2023-109579supp002.pdf

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Tan M et al.

Frontiers in Genetics, 2022

35910219 (PubMed )
Supplement: DataSheet1.xlsx › Table_S7
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