Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.E124Q
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AICDA

NM_020661.4:p.E124Q

Associated Papers

Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.

Chen CP et al.

Prenatal Diagnosis, 2001

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.

Bonaventure J et al.

American Journal of Medical Genetics, 1996

[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)].

Rousseau F et al.

Annales D'endocrinologie, 1996

Thanatophoric dysplasia type I.

Chang TK et al.

Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."