EPN3 c.1081T>C ;(p.W361R)

Variant ID: 17-48618255-T-C

NM_017957.2(EPN3):c.1081T>C;(p.W361R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome sequencing in families with chronic central serous chorioretinopathy.

Molecular Genetics & Genomic Medicine
Schellevis, Rosa L RL; van Dijk, Elon H C EHC; Breukink, Myrte B MB; Keunen, Jan E E JEE; Santen, Gijs W E GWE; Hoyng, Carel B CB; de Jong, Eiko K EK; Boon, Camiel J F CJF; den Hollander, Anneke I AI
Publication Date: 2019-04

Variant appearance in text: EPN3: W361R; rs1034737920
PubMed Link: 30724488
Variant Present in the following documents:
  • MGG3-7-na-s005.xlsx, sheet 13
View BVdb publication page