Varaico: Literature-Extracted Genetic Variants

Gene:TCTN1
Variant:p.W463fs
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TCTN1

NM_001082538.3:p.W463fs

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

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

Identification of a novel MKS locus defined by TMEM107 mutation.

Shaheen R et al.

Human Molecular Genetics, 2015

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