Publications:

Genetic etiological analysis of auditory neuropathy spectrum disorder by next-generation sequencing.

Frontiers In Neurology

Sun, Lianhua L; Lin, Zhengyu Z; Zhang, Jifang J; Shen, Jiali J; Wang, Xiaowen X; Yang, Jun J

Publication Date: 2022

Variant appearance in text: TG: 4263delC

PubMed Link: 36570450

Variant Present in the following documents:

• fneur-13-1026695.pdf

View BVdb publication page

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: TG: 4263del

PubMed Link: 33534821

Variant Present in the following documents:

• pone.0245681.s001.xlsx, sheet 1

View BVdb publication page