Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.N406S
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SORT1

NM_002959.7:p.N406S

Associated Papers

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.

Ben-Mahmoud A et al.

Frontiers in Molecular Neuroscience, 2022

36277487 (PubMed )
Supplement: Table_2.docx
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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."