Publications:

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: TTN: 71C>A; Thr24Asn

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 3

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A ternary complex comprising transportin1, Rab8 and the ciliary targeting signal directs proteins to ciliary membranes.

Journal Of Cell Science

Madugula, Viswanadh V; Lu, Lei L

Publication Date: 2016-10-15

Variant appearance in text: TMD: T24N

PubMed Link: 27633000

Variant Present in the following documents:

• Main text

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