Publications:

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Multi-mtDNA Variants May Be a Factor Contributing to Mitochondrial Function Variety in the Skin-Derived Fibroblasts of Leber's Hereditary Optic Neuropathy Patients.

Frontiers In Molecular Neuroscience

Yao, Shun S; Zhou, Qingru Q; Yang, Mingzhu M; Li, Ya Y; Jin, Xiuxiu X; Guo, Qingge Q; Yang, Lin L; Qin, Fangyuan F; Lei, Bo B

Publication Date: 2022

Variant appearance in text: F2: T114A

PubMed Link: 35909448

Variant Present in the following documents:

• Main text
• fnmol-15-920221.pdf

View BVdb publication page

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: F2: T114A

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Mitochondrial Mutations in Cholestatic Liver Disease with Biliary Atresia.

Scientific Reports

Koh, Hong H; Park, Gun-Seok GS; Shin, Sun-Mi SM; Park, Chang Eon CE; Kim, Seung S; Han, Seok Joo SJ; Pham, Huy Quang HQ; Shin, Jae-Ho JH; Lee, Dong-Woo DW

Publication Date: 2018-01-17

Variant appearance in text: F2: T114A

PubMed Link: 29343773

Variant Present in the following documents:

• Main text
• 41598_2017_Article_18958.pdf

View BVdb publication page

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Multiple Novel Functions of Henipavirus O-glycans: The First O-glycan Functions Identified in the Paramyxovirus Family.

Plos Pathogens

Stone, Jacquelyn A JA; Nicola, Anthony V AV; Baum, Linda G LG; Aguilar, Hector C HC

Publication Date: 2016-02

Variant appearance in text: F2: T114A

PubMed Link: 26867212

Variant Present in the following documents:

• ppat.1005445.pdf

View BVdb publication page

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A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest.

Human Genetics

Santorsola, Mariangela M; Calabrese, Claudia C; Girolimetti, Giulia G; Diroma, Maria Angela MA; Gasparre, Giuseppe G; Attimonelli, Marcella M

Publication Date: 2016-01

Variant appearance in text: F2: T114A

PubMed Link: 26621530

Variant Present in the following documents:

• 439_2015_1615_MOESM2_ESM.xls, sheet 3

View BVdb publication page

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Genetic diversity and evolution of human metapneumovirus fusion protein over twenty years.

Virology Journal

Yang, Chin-Fen CF; Wang, Chiaoyin K CK; Tollefson, Sharon J SJ; Piyaratna, Rohith R; Lintao, Linda D LD; Chu, Marla M; Liem, Alexis A; Mark, Mary M; Spaete, Richard R RR; Crowe, James E JE; Williams, John V JV

Publication Date: 2009-09-09

Variant appearance in text: F2: T114A

PubMed Link: 19740442

Variant Present in the following documents:

• Main text
• 1743-422X-6-138.pdf

View BVdb publication page

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