Associated Papers
WIPI proteins: Biological functions and related syndromes.
Almannai M et al.
Frontiers in Molecular Neuroscience, 2022
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33875846 (PubMed )
Supplement: 41436_2021_1159_MOESM2_ESM.xlsx › Homozygous_variants
Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.
Maroofian R et al.
Brain Communications, 2021
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