Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.M992R
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NF1

NM_001042492.3:p.M992R

Associated Papers

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.

Vernimmen V et al.

Human Reproduction (oxford, England), 2026

41289058 (PubMed )
Supplement: deaf224_supplementary_table_s1.pdf

Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review.

Huq A et al.

Familial Cancer, 2015

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies

Preimplantation genetic diagnosis for neurofibromatosis type 1.

Spits C et al.

Molecular Human Reproduction, 2005

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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."