PAH c.1316-123G>A

Variant ID: 12-103233119-C-T

NM_000277.1(PAH):c.1316-123G>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing.

European Journal Of Human Genetics : Ejhg
Musolf, Anthony M AM; Ho, Winson S C WSC; Long, Kyle A KA; Zhuang, Zhengping Z; Argersinger, Davis P DP; Sun, Haiming H; Moiz, Bilal A BA; Simpson, Claire L CL; Mendelevich, Elena G EG; Bogdanov, Enver I EI; Bailey-Wilson, Joan E JE; Heiss, John D JD
Publication Date: 2019-10

Variant appearance in text: rs554919613
PubMed Link: 31227808
Variant Present in the following documents:
  • Main text
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