Publications:

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OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.

Molecular Medicine (Cambridge, Mass.)

Sacchetto, Claudia C; Peretto, Laura L; Baralle, Francisco F; Maestri, Iva I; Tassi, Francesca F; Bernardi, Francesco F; van de Graaf, Stan F J SFJ; Pagani, Franco F; Pinotti, Mirko M; Balestra, Dario D

Publication Date: 2021-12-14

Variant appearance in text: OTC: 385C>T

PubMed Link: 34906067

Variant Present in the following documents:

• Main text
• 10020_2021_Article_418.pdf

View BVdb publication page

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OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.

Molecular Medicine (Cambridge, Mass.)

Sacchetto, Claudia C; Peretto, Laura L; Baralle, Francisco F; Maestri, Iva I; Tassi, Francesca F; Bernardi, Francesco F; van de Graaf, Stan F J SFJ; Pagani, Franco F; Pinotti, Mirko M; Balestra, Dario D

Publication Date: 2021-12-14

Variant appearance in text: OTC: 385C>T

PubMed Link: 34906067

Variant Present in the following documents:

• Main text
• 10020_2021_Article_418.pdf

View BVdb publication page

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Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.

Orphanet Journal Of Rare Diseases

Lu, Deyun D; Han, Feng F; Qiu, Wenjuan W; Zhang, Huiwen H; Ye, Jun J; Liang, Lili L; Wang, Yu Y; Ji, Wenjun W; Zhan, Xia X; Gu, Xuefan X; Han, Lianshu L

Publication Date: 2020-12-03

Variant appearance in text: OTC: R129C

PubMed Link: 33272297

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1606.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: OTC: 385C>T; R129C

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: OTC: 385C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: OTC: R129C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.

3 Biotech

Magesh, R R; George Priya Doss, C C

Publication Date: 2014-12

Variant appearance in text: OTC: R129C; rs140046498

PubMed Link: 28324312

Variant Present in the following documents:

• Main text
• 13205_2014_Article_216.pdf

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: OTC: 385C>T; R129C

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

View BVdb publication page

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