Associated Papers
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
41458559 (PubMed )
Supplement: Table5.xlsx › nsPOI
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes
The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.
Gomes JDA et al.
Scientific Reports, 2019
Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect.
Wang B et al.
International Journal of Cardiology, 2010
IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.
Paradisi I et al.
American Journal of Medical Genetics. Part A, 2007
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
Kohlhase J et al.
Human Mutation, 2005
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