Associated Papers
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
Kasai S et al.
Pediatric Blood & Cancer, 2024
38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs
A Novel Mutation in the ADAMTS10 Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.
Levitas A et al.
International Journal of Molecular Sciences, 2023
37240210 (PubMed )
Supplement: ijms-24-08864-s001.zip › ijms-2375138-supplementary.pdf
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.
Xie Y et al.
Children (basel, Switzerland), 2022
36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_3
Genomic and Transcriptomic Characterization of Relapsed SCLC Through Rapid Research Autopsy.
Chen HZ et al.
Jto Clinical and Research Reports, 2021
34590014 (PubMed )
Supplement: mmc5.xlsx › T5
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Ta-Shma A et al.
Plos Genetics, 2018
30148830 (PubMed )
Supplement: pgen.1007602.s008.pdf
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