PTEN c.567A>T ;(p.R189S)

Variant ID: 10-89711949-A-T

NM_000314.4(PTEN):c.567A>T;(p.R189S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly.

Science Advances
Mzoughi, Slim S; Di Tullio, Federico F; Low, Diana H P DHP; Motofeanu, Corina-Mihaela CM; Ong, Sheena L M SLM; Wollmann, Heike H; Wun, Cheng Mun CM; Kruszka, Paul P; Muenke, Maximilian M; Hildebrandt, Friedhelm F; Dunn, N Ray NR; Messerschmidt, Daniel M DM; Guccione, Ernesto E
Publication Date: 2020-01

Variant appearance in text: PTEN: 567A>T; R189S
PubMed Link: 31950080
Variant Present in the following documents:
  • aax9852_Tables_S1_to_S4.xlsx, sheet 15
View BVdb publication page



Cytolethal Distending Toxin Subunit B: A Review of Structure-Function Relationship.

Toxins
Pons, BenoƮt J BJ; Vignard, Julien J; Mirey, Gladys G
Publication Date: 2019-10-12

Variant appearance in text: PTEN: R189S
PubMed Link: 31614800
Variant Present in the following documents:
  • Main text
  • toxins-11-00595.pdf
View BVdb publication page