Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.C2013F
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RTTN

NM_173630.4:p.C2013F

Associated Papers

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

Guguin J et al.

Plos Genetics, 2024

Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.

Romano F et al.

Frontiers in Pediatrics, 2023

38178912 (PubMed )
Supplement: Datasheet1.pdf

Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly.

Imran Naseer M et al.

Saudi Journal of Biological Sciences, 2021

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