Publications:

The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.

Meta Gene

Georgiou, Theodoros T; Christopoulos, George G; Anastasiadou, Violetta V; Hadjiloizou, Stavros S; Cregeen, David D; Jackson, Marie M; Mavrikiou, Gavriella G; Kleanthous, Marina M; Drousiotou, Anthi A

Publication Date: 2014-12

Variant appearance in text: HEXA: V324V

PubMed Link: 25606403

Variant Present in the following documents:

• main.pdf

View BVdb publication page

Genomic features defining exonic variants that modulate splicing.

Genome Biology

Woolfe, Adam A; Mullikin, James C JC; Elnitski, Laura L

Publication Date: 2010

Variant appearance in text: HEXA: V324V

PubMed Link: 20158892

Variant Present in the following documents:

• gb-2010-11-2-r20.pdf

View BVdb publication page