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Human RASA1 wild-type allele is located in the vicinity of 5q13.3 and is approximately 124 kb in length. This allele, which encodes Ras GTPase-activating protein 1, plays a role in the regulation of guanidine triphosphate hydrolysis. Mutation of the gene is associated with capillary malformation-arteriovenous malformation, Parkes Weber syndrome and basal cell carcinomas.
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