Varaico: Literature-Extracted Genetic Variants

Gene:RASA1
Variant:p.E715*
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RASA1

NM_002890.3:p.E715*

Associated Papers

Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Figueiredo J et al.

Journal of Medical Genetics, 2019

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

Mattocks C et al.

Journal of Medical Genetics, 2004

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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."