Varaico: Literature-Extracted Genetic Variants

Gene:RASA1
Variant:p.Q676insFs
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RASA1

NM_002890.3:p.Q676insFs

Associated Papers

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R et al.

American Journal of Human Genetics, 2000

Molecular genetics of neurofibromatosis type 1 (NF1).

Shen MH et al.

Journal of Medical Genetics, 1996

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.

Heim RA et al.

Human Molecular Genetics, 1995

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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."