Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.S509F
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RTTN

NM_173630.4:p.S509F

Associated Papers

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

Guguin J et al.

Plos Genetics, 2024

39680576 (PubMed )
Supplement: pgen.1011517.s011.xlsx › Table_S1

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Vandervore LV et al.

Brain : a Journal of Neurology, 2019

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.

Chartier S et al.

Birth Defects Research, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."