Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R16H
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NF1

NM_001042492.3:p.R16H

Associated Papers

Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.

Newey PJ et al.

Journal of the Endocrine Society, 2017

29308445 (PubMed )
Supplement: js-01-12-1507.st1.docx

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Al-Gazali L et al.

Human Mutation, 2010

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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."