Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.R53*
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KIF7

NM_198525.3:p.R53*

Associated Papers

Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7.

Blasius TL et al.

Journal of Cell Science, 2021

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Maddirevula S et al.

Genome Biology, 2020

32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM5_ESM.xlsx › Table_S4
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