Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.L2301*
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NOTCH2

NM_024408.4:p.L2301*

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

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

Pittaway JFH et al.

Orphanet Journal of Rare Diseases, 2018

Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome.

Sakka S et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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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."