Associated Papers
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Vig A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32753734 (PubMed )
Supplement: 41436_2020_915_MOESM1_ESM.pdf
Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial aggregation in schizophrenia spectrum disorders.
Demily C et al.
Schizophrenia Research, 2018
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