Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Frontiers In Immunology
Mørup, Sara Bohnstedt SB; Nazaryan-Petersen, Lusine L; Gabrielaite, Migle M; Reekie, Joanne J; Marquart, Hanne V HV; Hartling, Hans Jakob HJ; Marvig, Rasmus L RL; Katzenstein, Terese L TL; Masmas, Tania N TN; Lundgren, Jens J; Murray, Daniel D DD; Helleberg, Marie M; Borgwardt, Line L
Publication Date: 2022
Variant appearance in text: GSN: 487G>A; Asp163Asn
Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.
Muscle & Nerve
Caress, James B JB; Johnson, Janel O JO; Abramzon, Yevgeniya A YA; Hawkins, Gregory A GA; Gibbs, J Raphael JR; Sullivan, Elizabeth A EA; Chahal, Chamanpreet S CS; Traynor, Bryan J BJ