Publications:

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Orphanet Journal Of Rare Diseases

Todd, Emily J EJ; Yau, Kyle S KS; Ong, Royston R; Slee, Jennie J; McGillivray, George G; Barnett, Christopher P CP; Haliloglu, Goknur G; Talim, Beril B; Akcoren, Zuhal Z; Kariminejad, Ariana A; Cairns, Anita A; Clarke, Nigel F NF; Freckmann, Mary-Louise ML; Romero, Norma B NB; Williams, Denise D; Sewry, Caroline A CA; Colley, Alison A; Ryan, Monique M MM; Kiraly-Borri, Cathy C; Sivadorai, Padma P; Allcock, Richard J N RJ; Beeson, David D; Maxwell, Susan S; Davis, Mark R MR; Laing, Nigel G NG; Ravenscroft, Gianina G

Publication Date: 2015-11-17

Variant appearance in text: RYR1: 5989G>A; Glu1997Lys

PubMed Link: 26578207

Variant Present in the following documents:

• Main text
• 13023_2015_Article_364.pdf

View BVdb publication page