Publications:

Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: ESR1: A558A

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: ESR1: A558A; rs9341068

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1

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Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population.

Human Genetics

Keene, Keith L KL; Mychaleckyj, Josyf C JC; Smith, Shelly G SG; Leak, Tennille S TS; Perlegas, Peter S PS; Langefeld, Carl D CD; Herrington, David M DM; Freedman, Barry I BI; Rich, Stephen S SS; Bowden, Donald W DW; Sale, Michèle M MM

Publication Date: 2008-05

Variant appearance in text: rs9341068

PubMed Link: 18305958

Variant Present in the following documents:

• Main text

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