Varaico: Literature-Extracted Genetic Variants

Gene:CSPP1
Variant:p.E750fs
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CSPP1

NM_001382391.1:p.E750fs

Associated Papers

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Shamseldin HE et al.

Genome Medicine, 2021

34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.

Frikstad KM et al.

Cell Reports, 2019

31412255 (PubMed )
Supplement: mmc1.pdf

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1
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