Varaico: Literature-Extracted Genetic Variants

Gene:KATNB1
Variant:p.R144_G145Splc
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KATNB1

NM_005886.3:p.R144_G145Splc

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

Katanin p80 regulates human cortical development by limiting centriole and cilia number.

Hu WF et al.

Neuron, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."