Varaico: Literature-Extracted Genetic Variants

Gene:FAM47C
Variant:p.A981V
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FAM47C

NM_001013736.3:p.A981V

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM7_ESM.xlsx › Combined

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

A genomics approach to male infertility.

Alhathal N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.

Cardinale CJ et al.

Bmc Musculoskeletal Disorders, 2016

27829420 (PubMed )
Supplement: 12891_2016_1320_MOESM1_ESM.xls › Sheet1
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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."