Article

Ciliopathy-associated missense mutations in IFT140 are hypomorphic and have edgetic effects on protein interaction networks

2023-01-19

Abstract excerpt

The mechanisms underlying recessive Mendelian diseases and the interplay between genotype and phenotype still need to be better understood. It is therefore necessary to characterise the functional effects of missense mutations at the protein level. Here we focus on missense mutations in the intraflagellar transport protein IFT140, which forms part of the IFT complex A (IFT-A), a crucial component of the ciliary ma...

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Literature Corpus work: 222810b7-9802-53cf-b18b-3a45961c3eb6
DOI: 10.1101/2023.01.18.523235

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