Publications:

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SELL and GUCY1A1 Gene Polymorphisms in Patients with Unstable Angina.

Biomedicines

Malinowski, Damian D; Zawadzka, Magda M; Safranow, Krzysztof K; Droździk, Marek M; Pawlik, Andrzej A

Publication Date: 2022-10-06

Variant appearance in text: rs2229569

PubMed Link: 36289756

Variant Present in the following documents:

• Main text
• biomedicines-10-02494.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2229569

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes.

Pediatric Research

Blume, Felix F; Kirsten, Holger H; Ahnert, Peter P; Chakraborty, Trinad T; Gross, Arnd A; Horn, Katrin K; Toliat, Mohammad Reza MR; Nürnberg, Peter P; Westenfelder, Eva-Maria EM; Goepel, Wolfgang W; Scholz, Markus M

Publication Date: 2022-07

Variant appearance in text: rs2229569

PubMed Link: 34465876

Variant Present in the following documents:

• Main text
• 41390_2021_Article_1689.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs2229569

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2229569

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2229569

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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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: rs2229569

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Role of Pharmacogenetics in Hematopoietic Stem Cell Transplantation Outcome in Children.

International Journal Of Molecular Sciences

Franca, Raffaella R; Stocco, Gabriele G; Favretto, Diego D; Giurici, Nagua N; Decorti, Giuliana G; Rabusin, Marco M

Publication Date: 2015-08-10

Variant appearance in text: rs2229569

PubMed Link: 26266406

Variant Present in the following documents:

• Main text
• ijms-16-18601.pdf

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs2229569

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Association between genetic variants in adhesion molecules and outcomes after hematopoietic cell transplants.

International Journal Of Immunogenetics

Thyagarajan, B B; Jackson, S S; Basu, S S; Jacobson, P P; Gross, M D MD; Weisdorf, D J DJ; Arora, M M

Publication Date: 2013-04

Variant appearance in text: rs2229569

PubMed Link: 22646485

Variant Present in the following documents:

• Main text

View BVdb publication page

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