Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.A1477T
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OBSL1

NM_015311.3:p.A1477T

Associated Papers

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1883.659

Comprehensive genetic and mutation analysis of familial dementia with Lewy bodies linked to 2q35-q36.

Meeus B et al.

Journal of Alzheimer's Disease : Jad, 2010

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder.

Bogaerts V et al.

Brain : a Journal of Neurology, 2007

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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."