Varaico: Literature-Extracted Genetic Variants

Gene:IFT80
Variant:p.L143S
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IFT80

NM_020800.3:p.L143S

Associated Papers

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Bizaoui V et al.

American Journal of Medical Genetics. Part A, 2019

Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis.

Taschner M et al.

Elife, 2018

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.

Baujat G et al.

Journal of Medical Genetics, 2013

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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."