Varaico: Literature-Extracted Genetic Variants

Gene:RASA1
Variant:p.L437R
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RASA1

NM_002890.3:p.L437R

Associated Papers

Clinically observed RASA1 missense mutants exhibit diverse RasGAP protein behaviors.

Paul ME et al.

Biorxiv : the Preprint Server for Biology, 2025

41256670 (PubMed )
Supplement: media-1.pdf

EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.

Zeng X et al.

Trends in Molecular Medicine, 2019

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.

Wooderchak-Donahue WL et al.

European Journal of Human Genetics : Ejhg, 2018

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

Revencu N et al.

Human Mutation, 2013

RASA1 analysis: clinical and molecular findings in a series of consecutive cases.

Wooderchak-Donahue W et al.

European Journal of Medical Genetics, 2012

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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."