Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.P7L
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AVP

NM_000490.5:p.P7L

Associated Papers

Pathogenic signal peptide variants in the human genome.

Gutierrez Guarnizo SA et al.

Nar Genomics and Bioinformatics, 2023

37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › H-region

Hereditary Neurohypophyseal Diabetes Insipidus.

Rutishauser J et al.

Experientia Supplementum (2012), 2019

Genetic forms of neurohypophyseal diabetes insipidus.

Rutishauser J et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2016

Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin.

Willcutts MD et al.

Human Molecular Genetics, 1999

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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."