High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families [PDF]
Toyomasa Katagiri+33 more
openalex +1 more source
Studying the Impact of the DDB2 T338M Missense Mutation on the Development of Equine Squamous Cell Carcinoma and Sarcoid. [PDF]
Quatember H+6 more
europepmc +1 more source
Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia [PDF]
Hideaki Sawai+3 more
openalex +1 more source
A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy. [PDF]
Capisizu A+3 more
europepmc +1 more source
Development of functional assays for BRCA1 missense mutations [PDF]
Sturdy, A+5 more
openaire +3 more sources
Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy. [PDF]
Dong J, Zhang W, Chen Q, Zha L.
europepmc +1 more source
Missense Mutation in the Alternative Splice Region of the PAX6 Gene in Eye Anomalies [PDF]
Noriyuki Azuma+5 more
openalex +1 more source