Associated Papers
A novel loss-of-function mutation of PBK associated with human kidney stone disease.
Nettuwakul C et al.
Scientific Reports, 2020
32581305 (PubMed )
Supplement: 41598_2020_66936_MOESM1_ESM.pdf
Further delineation of putative ACTB loss-of-function variants: A 4-patient series.
Baumann M et al.
Human Mutation, 2020
Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.
Sandestig A et al.
Molecular Syndromology, 2019
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham SL et al.
Nature Communications, 2018
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM et al.
Clinical Genetics, 2017
DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants.
Kwan V et al.
Cell Reports, 2016
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