Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.
Wang Z et al.
Orphanet Journal of Rare Diseases, 2023
37644569 (PubMed )
Supplement: 13023_2023_2874_MOESM1_ESM.docx
Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report.
Fang JX et al.
World Journal of Clinical Cases, 2022
Mining exomic sequencing data to identify mutated antigens recognized by adoptively transferred tumor-reactive T cells.
Robbins PF et al.
Nature Medicine, 2013
23644516 (PubMed )
Supplement: NIHMS455421-supplement-2.pdf
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.
Miller EM et al.
American Journal of Medical Genetics. Part A, 2012
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
Botzenhart EM et al.
Human Mutation, 2005
Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.
Albrecht B et al.
American Journal of Medical Genetics. Part A, 2004
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