Publications:

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.

Bmc Medical Genomics

Ajam-Hosseini, Mobarakeh M; Parvini, Farshid F; Angaji, Abdolhamid A

Publication Date: 2023-02-24

Variant appearance in text: PCSK9: E34K; rs371030381

PubMed Link: 36829172

Variant Present in the following documents:

• 12920_2023_1467_MOESM1_ESM.xls, sheet 1

View BVdb publication page

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes

Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O

Publication Date: 2021-01-06

Variant appearance in text: PCSK9: 100G>A; Glu34Lys; rs371030381

PubMed Link: 33418990

Variant Present in the following documents:

• Main text
• genes-12-00066.pdf

View BVdb publication page

Nuclease-Mediated Gene Therapies for Inherited Metabolic Diseases of the Liver.

The Yale Journal Of Biology And Medicine

Bryson, Taylor E TE; Anglin, Caitlin M CM; Bridges, P Hudson PH; Cottle, Renee N RN

Publication Date: 2017-12

Variant appearance in text: PCSK9: Glu34Lys

PubMed Link: 29259521

Variant Present in the following documents:

• Main text
• yjbm_90_4_553.pdf

View BVdb publication page