Varaico: Literature-Extracted Genetic Variants

Gene:SPMIP3
Variant:p.R122*
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SPMIP3

NM_001012970.3:p.R122*

Associated Papers

Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.

Ma J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

40386946 (PubMed )
Supplement: EMS206315-supplement-Supplementary_Table_5.xlsx › Sheet1

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF

Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Alonso-Gonzalez A et al.

Scientific Reports, 2021

33431980 (PubMed )
Supplement: 41598_2020_79412_MOESM1_ESM.xlsx › supplementary_table_14

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H et al.

Nature Communications, 2019

31616000 (PubMed )
Supplement: 41467_2019_12435_MOESM2_ESM.xls › Supp._Data_1
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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."