Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.D511G
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NF2

NM_000268.4:p.D511G

Associated Papers

Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.

Smith MJ et al.

Journal of Medical Genetics, 2024

Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis.

Perez-Becerril C et al.

Journal of Medical Genetics, 2024

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

Genetic landscape of sporadic vestibular schwannoma.

Håvik AL et al.

Journal of Neurosurgery, 2018

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