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
A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay.
Hexner-Erlichman Z et al.
Frontiers in Pediatrics, 2022
Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.
Harel T et al.
European Journal of Human Genetics : Ejhg, 2019
Truncation of TGF-β docking receptor GARP is linked to human disease.
Li Z
European Journal of Human Genetics : Ejhg, 2019
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