Associated Papers
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S10.xls › Sheet1
The effects of neurological disorder-related codon variations of ABCA13 on the function of the ABC protein.
Tomioka M et al.
Bioscience, Biotechnology, and Biochemistry, 2012
Investigation of rare non-synonymous variants at ABCA13 in schizophrenia and bipolar disorder.
Dwyer S et al.
Molecular Psychiatry, 2011
A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression.
Knight HM et al.
American Journal of Human Genetics, 2009
ABCA13 dysfunction associated with psychiatric disorders causes impaired cholesterol trafficking.
Nakato M et al.
The Journal of Biological Chemistry, 0
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