Publications:

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Hearing problems in patients with hereditary gelsolin amyloidosis.

Orphanet Journal Of Rare Diseases

Mustonen, Tuuli T; Sivonen, Ville V; Atula, Sari S; Kiuru-Enari, Sari S; Sinkkonen, Saku T ST

Publication Date: 2021-10-24

Variant appearance in text: PC: 640G>A

PubMed Link: 34689817

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2077.pdf

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Mitochondrial mutations drive prostate cancer aggression.

Nature Communications

Hopkins, Julia F JF; Sabelnykova, Veronica Y VY; Weischenfeldt, Joachim J; Simon, Ronald R; Aguiar, Jennifer A JA; Alkallas, Rached R; Heisler, Lawrence E LE; Zhang, Junyan J; Watson, John D JD; Chua, Melvin L K MLK; Fraser, Michael M; Favero, Francesco F; Lawerenz, Chris C; Plass, Christoph C; Sauter, Guido G; McPherson, John D JD; van der Kwast, Theodorus T; Korbel, Jan J; Schlomm, Thorsten T; Bristow, Robert G RG; Boutros, Paul C PC

Publication Date: 2017-09-22

Variant appearance in text: PCB: E214K

PubMed Link: 28939825

Variant Present in the following documents:

• Main text
• 41467_2017_Article_377.pdf

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Disease-associated mitochondrial mutations and the evolution of primate mitogenomes.

Plos One

Tavares, William Corrêa WC; Seuánez, Héctor N HN

Publication Date: 2017

Variant appearance in text: PC: E214K

PubMed Link: 28510580

Variant Present in the following documents:

• Main text
• pone.0177403.pdf

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Motor protein function in skeletal abdominal muscle of cachectic cancer patients.

Journal Of Cellular And Molecular Medicine

Taskin, Sultan S; Stumpf, Vera Isabell VI; Bachmann, Jeannine J; Weber, Cornelia C; Martignoni, Marc Eric ME; Friedrich, Oliver O

Publication Date: 2014-01

Variant appearance in text: PC: E214k

PubMed Link: 24251822

Variant Present in the following documents:

• jcmm0018-0069.pdf

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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Nature Genetics

Snape, Katie K; Hanks, Sandra S; Ruark, Elise E; Barros-Núñez, Patricio P; Elliott, Anna A; Murray, Anne A; Lane, Andrew H AH; Shannon, Nora N; Callier, Patrick P; Chitayat, David D; Clayton-Smith, Jill J; Fitzpatrick, David R DR; Gisselsson, David D; Jacquemont, Sebastien S; Asakura-Hay, Keiko K; Micale, Mark A MA; Tolmie, John J; Turnpenny, Peter D PD; Wright, Michael M; Douglas, Jenny J; Rahman, Nazneen N

Publication Date: 2011-06

Variant appearance in text: PC: 640G>A

PubMed Link: 21552266

Variant Present in the following documents:

• NIHMS35167-supplement-1.pdf

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Signal transduction pathways involved in proteolysis-inducing factor induced proteasome expression in murine myotubes.

British Journal Of Cancer

Smith, H J HJ; Tisdale, M J MJ

Publication Date: 2003-11-03

Variant appearance in text: PC: E214k

PubMed Link: 14583784

Variant Present in the following documents:

• 89-6601328a.pdf

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