Associated Papers
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
Kalayci T et al.
American Journal of Medical Genetics. Part A, 2023
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G et al.
Human Mutation, 2020
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Genovese G et al.
Nature Neuroscience, 2016
27694994 (PubMed )
Supplement: NIHMS815183-supplement-supp_table3.xlsx › Supplemenary_Table_3
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