Publications:

NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.

Human Mutation

Knarston, Ingrid M IM; Robevska, Gorjana G; van den Bergen, Jocelyn A JA; Eggers, Stefanie S; Croft, Brittany B; Yates, Jason J; Hersmus, Remko R; Looijenga, Leendert H J LHJ; Cameron, Fergus J FJ; Monhike, Klaus K; Ayers, Katie L KL; Sinclair, Andrew H AH

Publication Date: 2019-02

Variant appearance in text: RARA: Thr43Ser

PubMed Link: 30350900

Variant Present in the following documents:

• HUMU-40-207-s001.pdf

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A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ley, Timothy J TJ; Minx, Patrick J PJ; Walter, Matthew J MJ; Ries, Rhonda E RE; Sun, Hui H; McLellan, Michael M; DiPersio, John F JF; Link, Daniel C DC; Tomasson, Michael H MH; Graubert, Timothy A TA; McLeod, Howard H; Khoury, Hanna H; Watson, Mark M; Shannon, William W; Trinkaus, Kathryn K; Heath, Sharon S; Vardiman, James W JW; Caligiuri, Michael A MA; Bloomfield, Clara D CD; Milbrandt, Jeffrey D JD; Mardis, Elaine R ER; Wilson, Richard K RK

Publication Date: 2003-11-25

Variant appearance in text: RARA: T43S

PubMed Link: 14614138

Variant Present in the following documents:

• Main text

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