Kdf1 missense mutation caused enamel defects by disrupting cell adhesion and Hippo-YAP signaling in dental epithelium. [PDF]
Int J Oral SciLi P +8 more
europepmc +1 more source
High-Dose Furmonertinib Management of Advanced NSCLC Harboring an EGFR Exon 14 Missense Mutation: A Case Report and Literature Review. [PDF]
Am J Case RepLuo JY, Xiang J, Hong XL, Wang Z.
europepmc +1 more source
Gene therapy rescues cone function in an all-cone retina mouse model with the most common cone opsin C203R missense mutation. [PDF]
PLoS OneCahill ME +9 more
europepmc +1 more source
Missense mutation of <i>BMP1</i> may cause feline osteogenesis imperfecta without bone deformity. [PDF]
J Vet Diagn InvestTakanosu M, Aoki H, Toshima A, Kagawa Y.
europepmc +1 more source
Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene. [PDF]
Clin Case RepLi T +6 more
europepmc +1 more source
A Novel Missense Mutation in a Compound Heterozygous Patient with Fish-Eye Disease: A Case Report. [PDF]
Case Rep OphthalmolSitto MM +3 more
europepmc +1 more source
The impact of missense mutations on human behavior
Brain Research Bulletin, 2012 Mohajeri, M. Hasan, Giese, K. Peter
openaire +3 more sources
Novel missense and frameshift mutations in the adrenoleukodystrophy gene [PDF]
Japanese Journal of Human Genetics, 1996 H, Ueyama +3 more
openaire +2 more sources
CRYAB Missense Mutation Reveals Shared Pathogenesis of Familial Cardiomyopathy and Arrhythmia. [PDF]
Genes (Basel)Nariman A +6 more
europepmc +1 more source