Varaico: Literature-Extracted Genetic Variants

Gene:PDE11A
Variant:p.G57fs
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PDE11A

NM_016953.4:p.G57fs

Associated Papers

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

Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.

Quezada Urban R et al.

Cancers, 2018

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

Zarrei M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

28771244 (PubMed )
Supplement: gim201783x4.xlsx › de_novo

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

Barclay SF et al.

Orphanet Journal of Rare Diseases, 2015

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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."