Varaico: Literature-Extracted Genetic Variants

Gene:SALL1
Variant:p.S1145_S1146insTA
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SALL1

NM_002968.3:p.S1145_S1146insTA

Associated Papers

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

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.

Botzenhart EM et al.

Human Mutation, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."