Publications:

The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Npj Genomic Medicine

Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M

Publication Date: 2020

Variant appearance in text: TTN: 75483G>C; Lys25161Asn

PubMed Link: 33110626

Variant Present in the following documents:

• 41525_2020_153_MOESM1_ESM.pdf

View BVdb publication page

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.

Scientific Reports

Akinrinade, Oyediran O; Heliö, Tiina T; Lekanne Deprez, Ronald H RH; Jongbloed, Jan D H JDH; Boven, Ludolf G LG; van den Berg, Maarten P MP; Pinto, Yigal M YM; Alastalo, Tero-Pekka TP; Myllykangas, Samuel S; Spaendonck-Zwarts, Karin van KV; van Tintelen, J Peter JP; van der Zwaag, Paul A PA; Koskenvuo, Juha J

Publication Date: 2019-03-11

Variant appearance in text: TTN: 75483G>C; Lys25161Asn

PubMed Link: 30858397

Variant Present in the following documents:

• Main text
• 41598_2019_Article_39911.pdf

View BVdb publication page