Scholars@Duke

eP014: Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients

Publication ,  Conference
Goomber, S; Huggins, E; Rehder, C; Cohen, JL; Bali, D; Kishnani, P
Published in: Genetics in Medicine
March 2022
Published version (DOI) Publisher Link

Duke Scholars

Priya Sunil Kishnani
Author Priya Sunil Kishnani Pediatrics, Medical Genetics

Published In

Genetics in Medicine

DOI

10.1016/j.gim.2022.01.052

ISSN

1098-3600

Publication Date

March 2022

Volume

24

Issue

3

Start / End Page

S9 / S10

Publisher

Elsevier BV

Related Subject Headings

  • Genetics & Heredity
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Goomber, S., Huggins, E., Rehder, C., Cohen, J. L., Bali, D., & Kishnani, P. (2022). eP014: Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients. In Genetics in Medicine (Vol. 24, pp. S9–S10). Elsevier BV. https://doi.org/10.1016/j.gim.2022.01.052
Goomber, Shelly, Erin Huggins, Catherine Rehder, Jennifer L. Cohen, Deeksha Bali, and Priya Kishnani. “eP014: Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients.” In Genetics in Medicine, 24:S9–10. Elsevier BV, 2022. https://doi.org/10.1016/j.gim.2022.01.052.
Goomber S, Huggins E, Rehder C, Cohen JL, Bali D, Kishnani P. eP014: Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients. In: Genetics in Medicine. Elsevier BV; 2022. p. S9–10.
Goomber, Shelly, et al. “eP014: Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients.” Genetics in Medicine, vol. 24, no. 3, Elsevier BV, 2022, pp. S9–10. Crossref, doi:10.1016/j.gim.2022.01.052.
Goomber S, Huggins E, Rehder C, Cohen JL, Bali D, Kishnani P. eP014: Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients. Genetics in Medicine. Elsevier BV; 2022. p. S9–S10.

Published In

Genetics in Medicine

DOI

10.1016/j.gim.2022.01.052

ISSN

1098-3600

Publication Date

March 2022

Volume

24

Issue

3

Start / End Page

S9 / S10

Publisher

Elsevier BV

Related Subject Headings

  • Genetics & Heredity
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics