Varaico: Literature-Extracted Genetic Variants

Gene:SALL1
Variant:p.S159del1
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SALL1

NM_002968.3:p.S159del1

Associated Papers

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10492.xls › SNVIndel

Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.

Ke L et al.

Frontiers in Molecular Biosciences, 2021

35118119 (PubMed )
Supplement: Table3.xlsx › sheet_1

SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.

Böhm J et al.

American Journal of Medical Genetics. Part A, 2006

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Kohlhase J et al.

American Journal of Human Genetics, 1999

Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Marlin S et al.

Human Mutation, 1999

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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."