Publications:

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel missense mutation in AVP gene in a large Italian kindred.

Endocrine

Marzocchi, Carlotta C; Cantara, Silvia S; Sagnella, Alfonso A; Castagna, Maria Grazia MG; Capezzone, Marco M

Publication Date: 2021-10

Variant appearance in text: AVP: A60W

PubMed Link: 34319541

Variant Present in the following documents:

• 12020_2021_Article_2830.pdf

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Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family.

Annals Of Pediatric Endocrinology & Metabolism

Kim, Myo-Jing MJ; Kim, Young-Eun YE; Ki, Chang-Seok CS; Yoo, Jae-Ho JH

Publication Date: 2014-12

Variant appearance in text: AVP: A60W

PubMed Link: 25654069

Variant Present in the following documents:

• apem-19-220.pdf

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Misfolding of Mutated Vasopressin Causes ER-Retention and Activation of ER-Stress Markers in Neuro-2a Cells.

Open Neuroendocrinology Journal (Online)

Yan, Zhongyu Z; Hoffmann, Andrea A; Kaiser, Erin Kelly EK; Grunwald, William C WC; Cool, David R DR

Publication Date: 2011

Variant appearance in text: AVP: A60W

PubMed Link: 24567768

Variant Present in the following documents:

• nihms-545682.pdf

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