Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.S303fs
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CANT1

NM_001159773.2:p.S303fs

Associated Papers

Antenatal Phenotype of Desbuquois Dysplasia.

Biji IK et al.

Indian Journal of Pediatrics, 2023

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Al-Hamed MH et al.

Human Genetics, 2022

Molecular autopsy by proxy in preconception counseling.

Ali Alghamdi M et al.

Clinical Genetics, 2021

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
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