EGF c.945G>A ;(p.Q315=)

Variant ID: 4-110880472-G-A

NM_001963.4(EGF):c.945G>A;(p.Q315=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.

American Journal Of Medical Genetics. Part A
Zhian, Samaneh S; Belmont, John J; Maslen, Cheryl L CL
Publication Date: 2012-08

Variant appearance in text: EGF: 945G>A
PubMed Link: 22740159
Variant Present in the following documents:
  • Main text
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