Publications:

Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: LDLR: R744R

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene

Cymbron, Teresa T; Mendes, Patrícia P; Ramos, Amanda A; Raposo, Mafalda M; Kazachkova, Nadiya N; Medeiros, Ana Margarida AM; Bruges-Armas, Jácome J; Bourbon, Mafalda M; Lima, Manuela M

Publication Date: 2014-12

Variant appearance in text: LDLR: Arg744Arg

PubMed Link: 25606447

Variant Present in the following documents:

• Main text

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Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics

Komarova, Tatiana Yu TY; Korneva, Victoria A VA; Kuznetsova, Tatiana Yu TY; Golovina, Alexandra S AS; Vasilyev, Vadim B VB; Mandelshtam, Michail Yu MY

Publication Date: 2013-12-27

Variant appearance in text: LDLR: Arg744=

PubMed Link: 24373485

Variant Present in the following documents:

• Main text
• 1471-2350-14-128.pdf

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: LDLR: R744R

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

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Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics

Al-Khateeb, Alyaa A; Zahri, Mohd K MK; Mohamed, Mohd S MS; Sasongko, Teguh H TH; Ibrahim, Suhairi S; Yusof, Zurkurnai Z; Zilfalil, Bin A BA

Publication Date: 2011-03-19

Variant appearance in text: LDLR: Arg744Arg

PubMed Link: 21418584

Variant Present in the following documents:

• Main text

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