Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.G1673R
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NOTCH1

NM_017617.5:p.G1673R

Associated Papers

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Debiec RM et al.

Heart (british Cardiac Society), 2022

35288444 (PubMed )
Supplement: heartjnl-2021-320428supp001.pdf

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

Manshaei R et al.

Frontiers in Genetics, 2020

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Page DJ et al.

Circulation Research, 2019

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