Publications:

Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types.

Frontiers In Neurology

Martens, Kristina K; Leckie, Jamie J; Fok, Daniel D; Wells, Robyn A RA; Chhibber, Sameer S; Pfeffer, Gerald G

Publication Date: 2020

Variant appearance in text: DMD: Ala1010Pro; rs766325631

PubMed Link: 33505349

Variant Present in the following documents:

• Main text
• fneur-11-604547.pdf

View BVdb publication page

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: DMD: 3028G>C; Ala1010Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page