Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility.
Yepes S et al.
Cancers, 2021
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N et al.
Frontiers in Molecular Biosciences, 2020
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.
Bardakjian T et al.
American Journal of Ophthalmology Case Reports, 2017
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
Ye M et al.
Human Molecular Genetics, 2010
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