Published on in Vol 3, No 1 (2022): Jan-Dec

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/33946, first published .
Identification of a Novel c.3080delC JAG1 Gene Mutation Associated With Alagille Syndrome: Whole Exome Sequencing

Identification of a Novel c.3080delC JAG1 Gene Mutation Associated With Alagille Syndrome: Whole Exome Sequencing

Identification of a Novel c.3080delC JAG1 Gene Mutation Associated With Alagille Syndrome: Whole Exome Sequencing

Authors of this article:

Deepak Panwar1 Author Orcid Image ;   Vandana Lal1 Author Orcid Image ;   Atul Thatai1, 2 Author Orcid Image

Deepak Panwar   1 , PhD ;   Vandana Lal   1 , MD ;   Atul Thatai   1, 2 , PhD

1 Molecular Diagnostic Division, National Reference Laboratory, Dr Lal Pathlabs, New Delhi, India

2 Molecular and Cytogenomics Division, Max Specialty Hospital, New Delhi, India

Corresponding Author:

  • Atul Thatai, PhD
  • Molecular Diagnostic Division
  • National Reference Laboratory
  • Dr Lal Pathlabs
  • Block E, Sector 18, Rohini
  • New Delhi, 110085
  • India
  • Phone: 91 1139885050
  • Email: atul_thatai@hotmail.com