missense mutation - Robuta Search

https://pubmed.ncbi.nlm.nih.gov/24880466/

Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular...

To date, several disease-related mutations in NKX2-5, a cardiac-specific homeobox gene, have been documented in patients with a variety of congenital heart...

missense mutation novel highly lethal

https://pubmed.ncbi.nlm.nih.gov/25694107/

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

Autism spectrum disorder (ASD) is a clinically heterogeneous psychiatric disorder with various genetic backgrounds. Here, we report a novel mutation in the...

autism spectrum disorder case

https://www.cleverjournal.org/thymine-cytosine-missense-mutation-at-nucleotide-3538-in-fibrillin-1-gene-in-marfan-syndrome-a-case-report-of-an-aggressive-phenotype/

Thymine > cytosine missense mutation at nucleotide 3538 in fibrillin-1 gene in Marfan syndrome: A...

missense mutation thymine cytosine nucleotide fibrillin