Varaico: Literature-Extracted Genetic Variants

Gene:MCFD2
Variant:p.E50Splc
Back to variants list

MCFD2

NM_139279.6:p.E50Splc

Associated Papers

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

32368696 (PubMed )
Supplement: mmc3.xlsx › Cases

Low factor V level ameliorates bleeding diathesis in patients with combined deficiency of factor V and factor VIII.

Shao Y et al.

Blood, 2019

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."