Varaico: Literature-Extracted Genetic Variants

Gene:ABCC12
Variant:p.V850A
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ABCC12

NM_001393797.1:p.V850A

Associated Papers

The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.

Gogate A et al.

Npj Genomic Medicine, 2024

39632905 (PubMed )
Supplement: 41525_2024_444_MOESM2_ESM.xlsx › Supplementary_Data_5

Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.

Aghamir SMK et al.

Genes, 2023

37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__2.xlsx › _2

Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.

Tuncay IO et al.

Npj Genomic Medicine, 2022

35190550 (PubMed )
Supplement: 41525_2022_284_MOESM2_ESM.xlsx › Supplementary_Table_9

Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.

Martin S et al.

Acta Neuropathologica, 2020

32172343 (PubMed )
Supplement: 401_2020_2145_MOESM1_ESM.pdf
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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."