Varaico: Literature-Extracted Genetic Variants

Gene:ABCA10
Variant:p.R1322*
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ABCA10

NM_001377321.1:p.R1322*

Associated Papers

rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population.

Clark JSC et al.

Scientific Reports, 2023

37816715 (PubMed )
Supplement: 41598_2023_43323_MOESM1_ESM.xlsx › Sheet1

Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.

Wang J et al.

Iscience, 2023

37599823 (PubMed )
Supplement: mmc2.zip › Supplemental_tables › Supplemental_table_3.xlsx › Table_S3

Cerebellum and neurodevelopmental disorders: RORα is a unifying force.

Ribeiro S et al.

Frontiers in Cellular Neuroscience, 2023

37066074 (PubMed )
Supplement: Table_1.XLSX › SFARI_AutDB__2023

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs

Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.

Schafer ST et al.

Nature Neuroscience, 2019

30617258 (PubMed )
Supplement: NIHMS1512664-supplement-Sup_Table_5.xlsx › whole_genelist_SAFARI

Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice.

Suetterlin P et al.

Cerebral Cortex (new York, N.y. : 1991), 2018

29668850 (PubMed )
Supplement: bhy058suppl_1.zip › TableS2-S4.xlsx › SFARI_gene-score

Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.

Lin CY et al.

Scientific Reports, 2018

29523860 (PubMed )
Supplement: 41598_2018_22753_MOESM11_ESM.xlsx › Table_S10
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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."