Indicators
FGFR3 Gene
This gene plays a role in bone development and maintenance and mutations in the gene are associated with craniosynostosis and several types of skeletal dysplasia.
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Indicators
This gene plays a role in bone development and maintenance and mutations in the gene are associated with craniosynostosis and several types of skeletal dysplasia.
Indicators
This gene plays a role in mitogenesis and differentiation.
Indicators
This gene may play a role in tumor suppression.
Indicators
This gene plays a role in hematopoiesis and may function as a growth factor receptor.
Indicators
This gene plays a role in the modulation of gene expression.
Indicators
This gene is involved in transcriptional regulation and may play a role in myogenic growth and differentiation.
Glossary Term
A mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product.
Tests
A galactosemia test is a blood test given to newborns to check for a rare genetic metabolic disorder called galactosemia. Metabolic disorders affect metabolism, the process your body uses to make energy from the food you eat. Galactosemia can be inherited (passed down through families), but to have the condition, your baby has to receive the gene from both parents. Genes are parts of DNA in your cells that you inherit from your parents. You inherit two copies of each gene, one from each parent.
Indicators
This gene is involved in erythropoiesis and transcriptional activation.
Indicators
This gene is involved in both DNA binding and transcriptional regulation.
Indicators
This gene plays a role in the modulation of transcription.
Glossary Term
Any DNA sequence rearrangement that results in the gain of one or more copies of a DNA segment that contains at least one gene.