Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.A2356T
Back to variants list

NOTCH2

NM_024408.4:p.A2356T

Associated Papers

Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature.

Ahmed S et al.

Annals of Medicine and Surgery (2012), 2021

Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome.

Swan L et al.

Case Reports in Genetics, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."