Varaico: Literature-Extracted Genetic Variants

Gene:OXT
Variant:p.S18del1
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OXT

NM_000915.4:p.S18del1

Associated Papers

A case of central diabetes insipidus due to neurophysin II gene abnormality diagnosed based on a family history of nocturnal enuresis.

Sugawara L et al.

Endocrine Journal, 2022

Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene.

Toustrup LB et al.

Stem Cell Research, 2017

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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."