Publications:

Gene testing for osteonecrosis of the femoral head in systemic lupus erythematosus using targeted next-generation sequencing: A pilot study.

World Journal Of Clinical Cases

Sun, Hong-Sheng HS; Yang, Qing-Rui QR; Bai, Yan-Yan YY; Hu, Nai-Wen NW; Liu, Dong-Xia DX; Qin, Cheng-Yong CY

Publication Date: 2020-06-26

Variant appearance in text: PC: 373G>A; A125T

PubMed Link: 32607330

Variant Present in the following documents:

• WJCC-8-2530.pdf

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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Orphanet Journal Of Rare Diseases

Bonnet, Crystel C; Grati, M'hamed M; Marlin, Sandrine S; Levilliers, Jacqueline J; Hardelin, Jean-Pierre JP; Parodi, Marine M; Niasme-Grare, Magali M; Zelenika, Diana D; Délépine, Marc M; Feldmann, Delphine D; Jonard, Laurence L; El-Amraoui, Aziz A; Weil, Dominique D; Delobel, Bruno B; Vincent, Christophe C; Dollfus, Hélène H; Eliot, Marie-Madeleine MM; David, Albert A; Calais, Catherine C; Vigneron, Jacqueline J; Montaut-Verient, Bettina B; Bonneau, Dominique D; Dubin, Jacques J; Thauvin, Christel C; Duvillard, Alain A; Francannet, Christine C; Mom, Thierry T; Lacombe, Didier D; Duriez, Françoise F; Drouin-Garraud, Valérie V; Thuillier-Obstoy, Marie-Françoise MF; Sigaudy, Sabine S; Frances, Anne-Marie AM; Collignon, Patrick P; Challe, Georges G; Couderc, Rémy R; Lathrop, Mark M; Sahel, José-Alain JA; Weissenbach, Jean J; Petit, Christine C; Denoyelle, Françoise F

Publication Date: 2011-05-11

Variant appearance in text: PC: A125T

PubMed Link: 21569298

Variant Present in the following documents:

• 1750-1172-6-21.pdf

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Mitochondrial DNA analysis in primary congenital glaucoma.

Molecular Vision

Tanwar, Mukesh M; Dada, Tanuj T; Sihota, Ramanjit R; Dada, Rima R

Publication Date: 2010-03-24

Variant appearance in text: PC: A125T

PubMed Link: 20361014

Variant Present in the following documents:

• mv-v16-518.pdf

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Engineering of phenylacetaldehyde reductase for efficient substrate conversion in concentrated 2-propanol.

Applied And Environmental Microbiology

Makino, Yoshihide Y; Inoue, Kousuke K; Dairi, Tohru T; Itoh, Nobuya N

Publication Date: 2005-08

Variant appearance in text: PC: A125T

PubMed Link: 16085867

Variant Present in the following documents:

• Main text

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