Publications:

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Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction.

Genes

Sumalde, Angelo Augusto M AAM; Scholes, Melissa A MA; Kalmanson, Olivia A OA; Terhune, Elizabeth A EA; Frejo, Lidia L; Wethey, Cambria I CI; Roman-Naranjo, Pablo P; Carry, Patrick M PM; Gubbels, Samuel P SP; Lopez-Escamez, Jose A JA; Hadley-Miller, Nancy N; Santos-Cortez, Regie Lyn P RLP

Publication Date: 2023-03-30

Variant appearance in text: LRP1: 13471G>C; Asp4491His

PubMed Link: 37107589

Variant Present in the following documents:

• Main text
• genes-14-00831.pdf

View BVdb publication page

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Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.

International Journal Of Molecular Sciences

Pan-Lizcano, Ricardo R; Mariñas-Pardo, Luis L; Núñez, Lucía L; Rebollal-Leal, Fernando F; López-Vázquez, Domingo D; Pereira, Ana A; Molina-Nieto, Aranzazu A; Calviño, Ramón R; Vázquez-Rodríguez, Jose Manuel JM; Hermida-Prieto, Manuel M

Publication Date: 2022-12-17

Variant appearance in text: LRP1: 13471G>C; D4491H; rs142605462

PubMed Link: 36555767

Variant Present in the following documents:

• ijms-23-16127.pdf

View BVdb publication page

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Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports

Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C

Publication Date: 2020-04-28

Variant appearance in text: LRP1: 13471G>C; D4491H; rs142605462

PubMed Link: 32345996

Variant Present in the following documents:

• 41598_2020_63183_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Doher, Nicholas N; Gupta, Harsh V HV

Publication Date: 2019

Variant appearance in text: LRP1: D4491H

PubMed Link: 31824748

Variant Present in the following documents:

• tre-09-739-s003.xlsx, sheet 3

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: LRP1: D4491H

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Plos One

Sassi, Celeste C; Ridge, Perry G PG; Nalls, Michael A MA; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; , ; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Bras, Jose J; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J

Publication Date: 2016

Variant appearance in text: LRP1: D4491H; rs142605462

PubMed Link: 27249223

Variant Present in the following documents:

• Main text
• pone.0150079.pdf
• pone.0150079.s002.xlsx, sheet 1

View BVdb publication page

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