Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: AVPR2: G12E

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.

Frontiers In Pediatrics

Liao, Panli P; Xiang, Tianchao T; Li, Hongxia H; Fang, Ye Y; Fang, Xiaoyan X; Zhang, Zhiqing Z; Cao, Qi Q; Zhai, Yihui Y; Chen, Jing J; Xu, Linan L; Liu, Jialu J; Tang, Xiaoshan X; Liu, Xiaorong X; Wang, Xiaowen X; Luan, Jiangwei J; Shen, Qian Q; Chen, Lizhi L; Jiang, Xiaoyun X; Ma, Duan D; Xu, Hong H; Rao, Jia J

Publication Date: 2021

Variant appearance in text: AVPR2: Gly12Glu

PubMed Link: 33996673

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: AVPR2: 35G>A; G12E; rs2071126

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: AVPR2: 35G>A; Gly12Glu

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Effect of mutations in putative hormone binding sites on V2 vasopressin receptor function.

Research In Pharmaceutical Sciences

Sebti, Y Y; Rabbani, M M; Sadeghi, H Mir Mohammad HM; Sardari, S S; Ghahremani, M H MH; Innamorati, G G

Publication Date: 2015

Variant appearance in text: V2R: G12E

PubMed Link: 26600853

Variant Present in the following documents:

• Main text
• RPS-10-259.pdf

View BVdb publication page

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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: AVPR2: G12E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: AVPR2: G12E; rs2071126

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.

Endocrine Reviews

Moeller, Hanne B HB; Rittig, Søren S; Fenton, Robert A RA

Publication Date: 2013-04

Variant appearance in text: AVPR2: G12E

PubMed Link: 23360744

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lower rate of genomic variation identified in the trans-membrane domain of monoamine sub-class of Human G-Protein Coupled Receptors: the Human GPCR-DB Database.

Bmc Genomics

Wahlestedt, Claes C; Brookes, Anthony J AJ; Mottagui-Tabar, Salim S

Publication Date: 2004-12-04

Variant appearance in text: AVPR2: G12E; rs2071126

PubMed Link: 15579207

Variant Present in the following documents:

View BVdb publication page

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