Publications:

Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation.

Diagnostics (Basel, Switzerland)

Djos, Anna A; Treis, Diana D; Fransson, Susanne S; Gordon Murkes, Lena L; Wessman, Sandra S; Ásmundsson, Jurate J; Markström, Agneta A; Kogner, Per P; Martinsson, Tommy T

Publication Date: 2022-09-19

Variant appearance in text: RET: P953L

PubMed Link: 36140661

Variant Present in the following documents:

• Main text
• diagnostics-12-02260.pdf

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Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.

Bmc Medical Genetics

Núñez-Torres, Rocio R; Fernández, Raquel M RM; Acosta, Manuel Jesus MJ; Enguix-Riego, Maria Del Valle Mdel V; Marbá, Martina M; Carlos de Agustín, Juan J; Castaño, Luis L; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2011-10-13

Variant appearance in text: RET: 2858C>T; Pro953Leu

PubMed Link: 21995290

Variant Present in the following documents:

• Main text
• 1471-2350-12-138.pdf

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Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.

Plos One

Ruiz-Ferrer, Macarena M; Torroglosa, Ana A; Núñez-Torres, Rocío R; de Agustín, Juan Carlos JC; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2011

Variant appearance in text: RET: P953L

PubMed Link: 21858136

Variant Present in the following documents:

• Main text

View BVdb publication page