Varaico: Literature-Extracted Genetic Variants

Gene:STAB1
Variant:p.A2477V
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STAB1

NM_015136.3:p.A2477V

Associated Papers

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Lin D et al.

Bmc Medical Genomics, 2023

36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM3_ESM.xlsx › Sheet1

Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.

Toyama M et al.

Plos One, 2022

35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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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."