Varaico: Literature-Extracted Genetic Variants

Gene:IFT27
Variant:p.Q32*
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IFT27

NM_006860.5:p.Q32*

Associated Papers

Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.

Haïm D et al.

European Journal of Human Genetics : Ejhg, 2025

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.

Nawaz H et al.

Genes, 2023

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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