Publications:

A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia.

International Journal Of Molecular Sciences

Musialik, Joanna J; Boguszewska-Chachulska, Anna A; Pojda-Wilczek, Dorota D; Gorzkowska, Agnieszka A; Szymańczak, Robert R; Kania, Magdalena M; Kujawa-Szewieczek, Agata A; Wojcieszyn, Małgorzata M; Hartleb, Marek M; Więcek, Andrzej A

Publication Date: 2020-02-20

Variant appearance in text: APOB: 3696+1G>C; rs141422999

PubMed Link: 32093271

Variant Present in the following documents:

• Main text
• ijms-21-01439.pdf

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The UK10K project identifies rare variants in health and disease.

Nature

, ; Walter, Klaudia K; Min, Josine L JL; Huang, Jie J; Crooks, Lucy L; Memari, Yasin Y; McCarthy, Shane S; Perry, John R B JR; Xu, ChangJiang C; Futema, Marta M; Lawson, Daniel D; Iotchkova, Valentina V; Schiffels, Stephan S; Hendricks, Audrey E AE; Danecek, Petr P; Li, Rui R; Floyd, James J; Wain, Louise V LV; Barroso, Inês I; Humphries, Steve E SE; Hurles, Matthew E ME; Zeggini, Eleftheria E; Barrett, Jeffrey C JC; Plagnol, Vincent V; Richards, J Brent JB; Greenwood, Celia M T CM; Timpson, Nicholas J NJ; Durbin, Richard R; Soranzo, Nicole N

Publication Date: 2015-10-01

Variant appearance in text: rs141422999

PubMed Link: 26367797

Variant Present in the following documents:

• Main text
• 41586_2015_Article_BFnature14962.pdf

View BVdb publication page