Publications:

---

The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Bmc Genomic Data

Zhao, Ting T; Fan, Shanghua S; Sun, Liu L

Publication Date: 2021-11-17

Variant appearance in text: rs36090624

PubMed Link: 34789164

Variant Present in the following documents:

• 12863_2021_1010_MOESM8_ESM.xlsx, sheet 1
• 12863_2021_1010_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

---

Thrombotic microangiopathy triggered by podocytopathy.

Clinical Nephrology. Case Studies

Veríssimo, Rita R; Mateus, Catarina C; Laranjinha, Ivo I; Manso, Rita Theias RT; Dickson, Jorge J; Gonçalves, Margarida M; Gaspar, Maria Augusta MA; Machado, Domingos D

Publication Date: 2021

Variant appearance in text: ADAMTS13: 1874G>A; Arg625HIS

PubMed Link: 34646728

Variant Present in the following documents:

• Main text
• CNCS-9-110.pdf

View BVdb publication page

---

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: ADAMTS13: 1874G>A; Arg625His

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.

Research And Practice In Thrombosis And Haemostasis

Fidalgo, Teresa T; Martinho, Patrícia P; Pinto, Catarina S CS; Oliveira, Ana C AC; Salvado, Ramon R; Borràs, Nina N; Coucelo, Margarida M; Manco, Licínio L; Maia, Tabita T; Mendes, M João MJ; Del Orbe Barreto, Rafael R; Corrales, Irene I; Vidal, Francisco F; Ribeiro, M Letícia ML

Publication Date: 2017-07

Variant appearance in text: ADAMTS13: 1874G>A; Arg625His; rs36090624

PubMed Link: 30046676

Variant Present in the following documents:

• Main text
• RTH2-1-69.pdf
• RTH2-1-69-s004.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs36090624

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: ADAMTS13: R625H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

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: ADAMTS13: R625H; rs36090624

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs36090624

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

---

Molecular biology of ADAMTS13 and diagnostic utility of ADAMTS13 proteolytic activity and inhibitor assays.

Seminars In Thrombosis And Hemostasis

Shelat, Suresh G SG; Ai, Jihui J; Zheng, X Long XL

Publication Date: 2005-12

Variant appearance in text: ADAMTS13: R625H

PubMed Link: 16388417

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Kokame, Koichi K; Matsumoto, Masanori M; Soejima, Kenji K; Yagi, Hideo H; Ishizashi, Hiromichi H; Funato, Masahisa M; Tamai, Hiroshi H; Konno, Mutsuko M; Kamide, Kei K; Kawano, Yuhei Y; Miyata, Toshiyuki T; Fujimura, Yoshihiro Y

Publication Date: 2002-09-03

Variant appearance in text: ADAMTS13: R625H

PubMed Link: 12181489

Variant Present in the following documents:

• Main text

View BVdb publication page

---