Varaico: Literature-Extracted Genetic Variants

Gene:NSMF
Variant:p.N477D
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NSMF

NM_001130969.3:p.N477D

Associated Papers

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.

Jauss RT et al.

Genes, 2022

36553572 (PubMed )
Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1

Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.

Klau J et al.

European Journal of Human Genetics : Ejhg, 2022

34690354 (PubMed )
Supplement: 41431_2021_981_MOESM3_ESM.xlsx › variants
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