Publications:

Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.

International Journal Of Molecular Sciences

Nazarenko, Maria S MS; Sleptcov, Aleksei A AA; Zarubin, Aleksei A AA; Salakhov, Ramil R RR; Shevchenko, Alexander I AI; Tmoyan, Narek A NA; Elisaphenko, Eugeny A EA; Zubkova, Ekaterina S ES; Zheltysheva, Nina V NV; Ezhov, Marat V MV; Kukharchuk, Valery V VV; Parfyonova, Yelena V YV; Zakian, Suren M SM; Zakharova, Irina S IS

Publication Date: 2023-02-24

Variant appearance in text: APOB: 1327T>C

PubMed Link: 36901902

Variant Present in the following documents:

• ijms-24-04471.pdf

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Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Frontiers In Genetics

Vasilyev, Vadim V; Zakharova, Faina F; Bogoslovskay, Tatiana T; Mandelshtam, Mikhail M

Publication Date: 2020

Variant appearance in text: APOB: 1327T>C

PubMed Link: 33391333

Variant Present in the following documents:

• fgene-11-550591.pdf

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Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.

Cholesterol

Korneva, V A VA; Kuznetsova, T Yu TY; Bogoslovskaya, T Yu TY; Polyakov, D S DS; Vasilyev, V B VB; Orlov, A V AV; Mandelshtam, M Yu MY

Publication Date: 2017

Variant appearance in text: APOB: 1327T>C

PubMed Link: 28458923

Variant Present in the following documents:

• Main text
• CHOLESTEROL2017-9375818.pdf

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