Associated Papers
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Wong S et al.
Embo Molecular Medicine, 2023
37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Hets
A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.
Vitali C et al.
Journal of Lipid Research, 2022
35065092 (PubMed )
Supplement: mmc1.pdf
LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.
Mehta R et al.
Lipids in Health and Disease, 2021
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease.
Ustaoglu M et al.
Cornea, 2019
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