Associated Papers
Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila.
Thorpe HJ et al.
American Journal of Human Genetics, 2025
Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila.
Thorpe HJ et al.
Biorxiv : the Preprint Server for Biology, 2024
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1
ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
de la Morena-Barrio ME et al.
Molecular Genetics & Genomic Medicine, 2020
32530140 (PubMed )
Supplement: MGG3-8-e1304-s002.xlsx › Hoja1
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
Citro V et al.
International Journal of Molecular Sciences, 2018
30061496 (PubMed )
Supplement: ijms-19-02218-s001.zip › supplementary_file_3.xlsx › Sheet1
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.
de la Morena-Barrio ME et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.
Duan J et al.
Scientific Reports, 2013
23422947 (PubMed )
Supplement: srep01318-s2.xls › S7
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