Publications:

Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population.

Gigascience

Gaither, Jeffrey B S JBS; Lammi, Grant E GE; Li, James L JL; Gordon, David M DM; Kuck, Harkness C HC; Kelly, Benjamin J BJ; Fitch, James R JR; White, Peter P

Publication Date: 2021-04-05

Variant appearance in text: KRAS: 30A>C

PubMed Link: 33822938

Variant Present in the following documents:

• Main text
• giab023_giga-d-20-00178_revision_2.pdf
• giab023_giga-d-20-00178_revision_1.pdf

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: KRAS: 30A>C

PubMed Link: 31189880

Variant Present in the following documents:

• Main text
• 41467_2019_10489_MOESM1_ESM.pdf
• 41467_2019_Article_10489.pdf
• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

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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: KRAS: G10G

PubMed Link: 29698444

Variant Present in the following documents:

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

View BVdb publication page