Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.Y2244*
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NOTCH3

NM_000435.3:p.Y2244*

Associated Papers

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Iruzubieta P et al.

Ebiomedicine, 2024

39191170 (PubMed )
Supplement: mmc1.pdf

Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis.

Yamada M et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2022

The developmental biology of genetic Notch disorders.

Mašek J et al.

Development (cambridge, England), 2017

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2015

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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."