Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: AVP: 55G>A; Ala19Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man.

Aace Clinical Case Reports

Phan, Van T T VTT; Bloomer, Zachary W ZW; Phan, Vien T X VTX; Shakir, Mohamed K M MKM; Hoang, Thanh D TD

Publication Date: 2021

Variant appearance in text: AVP: 55G>A; Ala19Thr

PubMed Link: 34765727

Variant Present in the following documents:

• Main text
• main.pdf

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A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory.

Case Reports In Endocrinology

Carlsson, Elin Rebecka ER; Toft Nielsen, Mai-Britt MB; Høgh, Anne Mette AM; Veggerby Grønlund, Rikke R; Fenger, Mogens M; Ambye, Louise L

Publication Date: 2019

Variant appearance in text: ADH: 55G>A

PubMed Link: 30895164

Variant Present in the following documents:

• 9468252.f1.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: A19T

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: A19T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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