Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.L354L
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ENG

NM_001114753.3:p.L354L

Associated Papers

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

Identifying common genetic variants by high-resolution melting.

Vandersteen JG et al.

Clinical Chemistry, 2007

ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis.

Howe JR et al.

Clinical Genetics, 2007

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Olivieri C et al.

Journal of Human Genetics, 2007

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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."