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
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics.
Jin M et al.
Scientific Reports, 2017
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
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
Yigit G et al.
American Journal of Medical Genetics. Part A, 2016
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Mishra-Gorur K et al.
Neuron, 2014
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