Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.E846Q
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SOS1

NM_005633.4:p.E846Q

Associated Papers

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Koczkowska M et al.

American Journal of Human Genetics, 2018

29290338 (PubMed )
Supplement: mmc3.pdf
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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."