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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPAS2

Variant:p.P822L

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NPAS2

NM_002518.4:p.P822L

hg38:chr2:100995572 C>T

Associated Papers

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Ha TT et al.

Genes, 2023

37628618 (PubMed )

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

Lund C et al.

Molecular Syndromology, 2016

27781033 (PubMed )

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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."