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: RET: I638M

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3

View BVdb publication page

Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.

Journal Of Human Genetics

Carter, Tonia C TC; Kay, Denise M DM; Browne, Marilyn L ML; Liu, Aiyi A; Romitti, Paul A PA; Kuehn, Devon D; Conley, Mary R MR; Caggana, Michele M; Druschel, Charlotte M CM; Brody, Lawrence C LC; Mills, James L JL

Publication Date: 2012-08

Variant appearance in text: RET: I638M

PubMed Link: 22648184

Variant Present in the following documents:

• Main text

View BVdb publication page