Varaico: Literature-Extracted Genetic Variants

Gene:KATNB1
Variant:p.V150fs
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KATNB1

NM_005886.3:p.V150fs

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

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.

Mishra-Gorur K et al.

Neuron, 2014

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