RET c.203T>A ;(p.L68Q)

Variant ID: 10-43596036-T-A

NM_020975.4(RET):c.203T>A;(p.L68Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

European Journal Of Human Genetics : Ejhg
Jannot, Anne-Sophie AS; Amiel, Jeanne J; Pelet, Anna A; Lantieri, Francesca F; Fernandez, Raquel M RM; Verheij, Joke B G M JB; Garcia-Barcelo, Merce M; Arnold, Stacey S; Ceccherini, Isabella I; Borrego, Salud S; Hofstra, Robert M W RM; Tam, Paul K H PK; Munnich, Arnold A; Chakravarti, Aravinda A; Clerget-Darpoux, Françoise F; Lyonnet, Stanislas S
Publication Date: 2012-09

Variant appearance in text: RET: L68Q
PubMed Link: 22395866
Variant Present in the following documents:
  • Main text
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