Publications:

Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica Et Biophysica Acta. Biomembranes

Wiriyasermkul, Pattama P; Moriyama, Satomi S; Nagamori, Shushi S

Publication Date: 2020-12-01

Variant appearance in text: MNK: E628V

PubMed Link: 32333855

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• main.pdf

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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: ATP7A: E628V

PubMed Link: 31819097

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• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.

Biometals : An International Journal On The Role Of Metal Ions In Biology, Biochemistry, And Medicine

Ariöz, Candan C; Li, Yaozong Y; Wittung-Stafshede, Pernilla P

Publication Date: 2017-12

Variant appearance in text: ATP7A: E628V

PubMed Link: 29063292

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• 10534_2017_Article_58.pdf

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Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.

Scientific Reports

Skjørringe, Tina T; Amstrup Pedersen, Per P; Salling Thorborg, Sidsel S; Nissen, Poul P; Gourdon, Pontus P; Birk Møller, Lisbeth L

Publication Date: 2017-04-07

Variant appearance in text: ATP7A: 1883A>T; E628V

PubMed Link: 28389643

Variant Present in the following documents:

• Main text
• 41598_2017_Article_618.pdf

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