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: I647I

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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A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.

American Journal Of Human Genetics

Griseri, Paola P; Pesce, Barbara B; Patrone, Giovanna G; Osinga, Jan J; Puppo, Francesca F; Sancandi, Monica M; Hofstra, Robert R; Romeo, Giovanni G; Ravazzolo, Roberto R; Devoto, Marcella M; Ceccherini, Isabella I

Publication Date: 2002-10

Variant appearance in text: RET: I647I

PubMed Link: 12214285

Variant Present in the following documents:

• Main text

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