Associated Papers
Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome.
Kiener S et al.
Genes, 2022
35627182 (PubMed )
Supplement: genes-13-00797-s001.zip › Table_S4_Private_Variants.xlsx › priv.het.prot.chang.var._case_1
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Burkitt Wright EMM et al.
American Journal of Human Genetics, 2011
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