Associated Papers
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Peluso F et al.
Genes, 2021
34202629 (PubMed )
Supplement: genes-12-00962-s001.zip › genes-1252885-supplementary › Table_S3_-_Biallelic_KATNB1_variants_20210611.xlsx › Foglio1
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30214071 (PubMed )
Supplement: NIHMS1061370-supplement-1061370_Sup_MOESM2.xlsx › Sheet1
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Katanin p80 regulates human cortical development by limiting centriole and cilia number.
Hu WF et al.
Neuron, 2014
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