Publications:

Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy.

Frontiers In Neurology

Guan, Yuqing Y; Zhang, Yanxia Y; Shen, Xin-Ming XM; Zhou, Liang L; Shang, Xuan X; Peng, Yu Y; Hu, Yafang Y; Li, Wei W

Publication Date: 2021

Variant appearance in text: 225: Arg411Lys

PubMed Link: 34712195

Variant Present in the following documents:

• Main text
• fneur-12-694966.pdf

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Perspectives on the Role of Enzymatic Biocatalysis for the Degradation of Plastic PET.

International Journal Of Molecular Sciences

Magalhães, Rita P RP; Cunha, Jorge M JM; Sousa, Sérgio F SF

Publication Date: 2021-10-19

Variant appearance in text: 225: R411K

PubMed Link: 34681915

Variant Present in the following documents:

• Main text

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: 225: R411K

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: 225: Arg411Lys

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

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Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases

Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A

Publication Date: 2015-01

Variant appearance in text: 225: Arg411Lys

PubMed Link: 25568942

Variant Present in the following documents:

• pntd.0003404.s019.xlsx, sheet 1

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