Varaico: Literature-Extracted Genetic Variants

Gene:OXT
Variant:p.G54R
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OXT

NM_000915.4:p.G54R

Associated Papers

Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.

Christensen JH et al.

European Journal of Human Genetics : Ejhg, 2004

Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.

Rittig S et al.

American Journal of Human Genetics, 1996

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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."