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
Novel potential causative genes in carotid paragangliomas.
Bmc Medical Genetics
Snezhkina, Anastasiya V AV; Lukyanova, Elena N EN; Zaretsky, Andrew R AR; Kalinin, Dmitry V DV; Pokrovsky, Anatoly V AV; Golovyuk, Alexander L AL; Krasnov, George S GS; Fedorova, Maria S MS; Pudova, Elena A EA; Kharitonov, Sergey L SL; Melnikova, Nataliya V NV; Alekseev, Boris Y BY; Kiseleva, Marina V MV; Kaprin, Andrey D AD; Dmitriev, Alexey A AA; Kudryavtseva, Anna V AV