PTEN c.352C>A ;(p.H118N)

Variant ID: 10-89692868-C-A

NM_000314.4(PTEN):c.352C>A;(p.H118N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: H118N
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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Protein phosphatase 2A is a negative regulator of IL-2 production in patients with systemic lupus erythematosus.

The Journal Of Clinical Investigation
Katsiari, Christina G CG; Kyttaris, Vasileios C VC; Juang, Yuang-Taung YT; Tsokos, George C GC
Publication Date: 2005-11

Variant appearance in text: PTEN: H118N
PubMed Link: 16224536
Variant Present in the following documents:
  • Main text
View BVdb publication page