Publications:

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Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.

Jci Insight

Bravo-Pérez, Carlos C; Toderici, Mara M; Chambers, Joseph E JE; Martínez-Menárguez, José A JA; Garrido-Rodriguez, Pedro P; Pérez-Sanchez, Horacio H; de la Morena-Barrio, Belén B; Padilla, José J; Miñano, Antonia A; Cifuentes-Riquelme, Rosa R; Vicente, Vicente V; Lozano, Maria L ML; Marciniak, Stefan J SJ; de la Morena-Barrio, Maria Eugenia ME; Corral, Javier J

Publication Date: 2022-10-10

Variant appearance in text: rs1799876

PubMed Link: 36214221

Variant Present in the following documents:

• jciinsight-7-161430-s136.pdf

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Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases.

Frontiers In Cardiovascular Medicine

Bereczky, Zsuzsanna Z; Gindele, Réka R; Fiatal, Szilvia S; Speker, Marianna M; Miklós, Tünde T; Balogh, László L; Mezei, Zoltán Z; Szabó, Zsuzsanna Z; Ádány, Róza R

Publication Date: 2020

Variant appearance in text: rs1799876

PubMed Link: 33614741

Variant Present in the following documents:

• Main text
• fcvm-07-617711.pdf

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Translational Molecular Approaches in Substance Abuse Research.

Handbook Of Experimental Pharmacology

Fulton, Sasha L SL; Maze, Ian I

Publication Date: 2020

Variant appearance in text: rs1799876

PubMed Link: 31628598

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of beverage consumption: Implications for nutrition and health.

Advances In Food And Nutrition Research

Cornelis, Marilyn C MC

Publication Date: 2019

Variant appearance in text: rs1799876

PubMed Link: 31351524

Variant Present in the following documents:

• Main text

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: SERPINC1: 1153+219T>C; rs1799876

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs1799876

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Human Genetics of Addiction: New Insights and Future Directions.

Current Psychiatry Reports

Hancock, Dana B DB; Markunas, Christina A CA; Bierut, Laura J LJ; Johnson, Eric O EO

Publication Date: 2018-03-05

Variant appearance in text: rs1799876

PubMed Link: 29504045

Variant Present in the following documents:

• Main text

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Lack of associations of the opioid receptor mu 1 (OPRM1) A118G polymorphism (rs1799971) with alcohol dependence: review and meta-analysis of retrospective controlled studies.

Bmc Medical Genetics

Kong, Xiangyi X; Deng, Hao H; Gong, Shun S; Alston, Theodore T; Kong, Yanguo Y; Wang, Jingping J

Publication Date: 2017-10-26

Variant appearance in text: rs1799876

PubMed Link: 29070014

Variant Present in the following documents:

• Main text
• 12881_2017_Article_478.pdf

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Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study.

Molecular Psychiatry

Jorgenson, E E; Thai, K K KK; Hoffmann, T J TJ; Sakoda, L C LC; Kvale, M N MN; Banda, Y Y; Schaefer, C C; Risch, N N; Mertens, J J; Weisner, C C; Choquet, H H

Publication Date: 2017-09

Variant appearance in text: rs1799876

PubMed Link: 28485404

Variant Present in the following documents:

• Main text
• nihms863512.pdf

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