Publications:

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: DMD: L51R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Orphanet Journal Of Rare Diseases

Okubo, Mariko M; Goto, Kanako K; Komaki, Hirofumi H; Nakamura, Harumasa H; Mori-Yoshimura, Madoka M; Hayashi, Yukiko K YK; Mitsuhashi, Satomi S; Noguchi, Satoru S; Kimura, En E; Nishino, Ichizo I

Publication Date: 2017-08-31

Variant appearance in text: DMD: 152T>G; Leu51Arg

PubMed Link: 28859693

Variant Present in the following documents:

• Main text
• 13023_2017_Article_703.pdf

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Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.

Nature Communications

Gellert, Pascal P; Segal, Corrinne V CV; Gao, Qiong Q; López-Knowles, Elena E; Martin, Lesley-Ann LA; Dodson, Andrew A; Li, Tiandao T; Miller, Christopher A CA; Lu, Charles C; Mardis, Elaine R ER; Gillman, Alexa A; Morden, James J; Graf, Manuela M; Sidhu, Kally K; Evans, Abigail A; Shere, Michael M; Holcombe, Christopher C; McIntosh, Stuart A SA; Bundred, Nigel N; Skene, Anthony A; Maxwell, William W; Robertson, John J; Bliss, Judith M JM; Smith, Ian I; Dowsett, Mitch M; ,

Publication Date: 2016-11-09

Variant appearance in text: DMD: L51R

PubMed Link: 27827358

Variant Present in the following documents:

• ncomms13294-s3.xlsx, sheet 1

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