GC c.636del ;(p.T213Pfs*25)

Variant ID: 4-72629190-TG-T

NM_000583.3(GC):c.636del;(p.T213Pfs*25)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

Plos One
Koskenvuo, Juha W JW; Saarinen, Inka I; Ahonen, Saija S; Tommiska, Johanna J; Weckström, Sini S; Seppälä, Eija H EH; Tuupanen, Sari S; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Heliö, Krista K; Hathaway, Julie J; Gummesson, Anders A; Dahlberg, Pia P; Ojala, Tiina H TH; Vepsäläinen, Ville V; Kytölä, Ville V; Muona, Mikko M; Sistonen, Johanna J; Salmenperä, Pertteli P; Gentile, Massimiliano M; Paananen, Jussi J; Myllykangas, Samuel S; Alastalo, Tero-Pekka TP; Heliö, Tiina T
Publication Date: 2021

Variant appearance in text: GC: 636del
PubMed Link: 33534821
Variant Present in the following documents:
  • pone.0245681.s001.xlsx, sheet 1
View BVdb publication page