Publications:

STING-associated vasculopathy with onset in infancy: a familial case series report and literature review.

Annals Of Translational Medicine

Wang, Yan Y; Wang, Fan F; Zhang, Xiaolei X

Publication Date: 2021-01

Variant appearance in text: CP: 841G>A

PubMed Link: 33569478

Variant Present in the following documents:

• atm-09-02-176.pdf

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Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Genes

Hebert, Eva E; Borngräber, Friederike F; Schmidt, Alexander A; Rakovic, Aleksandar A; Brænne, Ingrid I; Weissbach, Anne A; Hampf, Jennie J; Vollstedt, Eva-Juliane EJ; Größer, Leopold L; Schaake, Susen S; Müller, Michaela M; Manzoor, Humera H; Jabusch, Hans-Christian HC; Alvarez-Fischer, Daniel D; Kasten, Meike M; Kostic, Vladimir S VS; Gasser, Thomas T; Zeuner, Kirsten E KE; Kim, Han-Joon HJ; Jeon, Beomseok B; Bauer, Peter P; Altenmüller, Eckart E; Klein, Christine C; Lohmann, Katja K

Publication Date: 2017-10-18

Variant appearance in text: CP: 841G>A; V281I

PubMed Link: 29057844

Variant Present in the following documents:

• genes-08-00276-s001.pdf

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: CP: V281I

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

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