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: C52R

PubMed Link: 34319541

Variant Present in the following documents:

• Main text
• 12020_2021_Article_2830.pdf

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Central diabetes insipidus.

Nagoya Journal Of Medical Science

Arima, Hiroshi H; Azuma, Yoshinori Y; Morishita, Yoshiaki Y; Hagiwara, Daisuke D

Publication Date: 2016-12

Variant appearance in text: AVP: C52R

PubMed Link: 28008190

Variant Present in the following documents:

• Main text
• 2186-3326-78-0349.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: AVP: C52R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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