Publications:

---

HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GC: 455C>G

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: GC: 455C>G; P152R

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: GC: 455C>G

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

---

The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology

Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A

Publication Date: 2021-02-05

Variant appearance in text: GC: 455C>G; Pro152Arg

PubMed Link: 33546694

Variant Present in the following documents:

• 12915_2021_962_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Base editing in crops: current advances, limitations and future implications.

Plant Biotechnology Journal

Mishra, Rukmini R; Joshi, Raj Kumar RK; Zhao, Kaijun K

Publication Date: 2020-01

Variant appearance in text: GC: P152R

PubMed Link: 31365173

Variant Present in the following documents:

• Main text
• PBI-18-20.pdf

View BVdb publication page

---

Human gastric cancer modelling using organoids.

Gut

Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE

Publication Date: 2019-02

Variant appearance in text: GC: Pro152Arg

PubMed Link: 29703791

Variant Present in the following documents:

• gutjnl-2017-314549supp010.xlsx, sheet 3

View BVdb publication page

---

Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: GC: 455C>G; P152R

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)

Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB

Publication Date: 2017-07-05

Variant appearance in text: GC: Pro152Arg

PubMed Link: 28592556

Variant Present in the following documents:

• 2345FileS1.xlsx, sheet 1

View BVdb publication page

---

Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome.

Jimd Reports

Halbach, Nicky S J NS; Smeets, Eric E J EE; Bierau, Jörgen J; Keularts, Irene M L W IM; Plasqui, Guy G; Julu, Peter O O PO; Engerström, Ingegerd Witt IW; Bakker, Jaap A JA; Curfs, Leopold M G LM

Publication Date: 2012

Variant appearance in text: GC: P152R

PubMed Link: 23430883

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.

American Journal Of Human Genetics

Buyse, I M IM; Fang, P P; Hoon, K T KT; Amir, R E RE; Zoghbi, H Y HY; Roa, B B BB

Publication Date: 2000-12

Variant appearance in text: GC: P152R

PubMed Link: 11055898

Variant Present in the following documents:

• Main text

View BVdb publication page

---