Varaico: Literature-Extracted Genetic Variants

Gene:NFIA
Variant:p.L120P
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NFIA

NM_001134673.4:p.L120P

Associated Papers

Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.

Bertini V et al.

Genes, 2022

36553517 (PubMed )
Supplement: genes-13-02249-s001.zip › genes-1961624-supplementary.pdf

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
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