© 1997 Nature Publishing Group http://www.nature.com/naturegenetics
Top Related
A missense mutation in SNRPE linked to non-syndromal ...
Where a heterozygote has a phenotype intermediate between the corresponding homozygote phenotypes.
Clinical Studies Cancer Research MLH1 Founder Mutations ...rosenberglab.stanford.edu/papers/BorrasEtAl2010-CancerRes.pdf · Clinical Studies MLH1 Founder Mutations with Moderate Penetrance
Functional Characterization of a Missense Variant of MLH1 … · 2020. 1. 29. · Research Article Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome
Burden analysis of missense variants in 1,330 disease ... · sequencing studies can identify such protein-altering missense variants; however, the missing knowledge about the consequence
BRCA2 Hypomorphic Missense Variants Confer Moderate … CLUB DEVILEE... · BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer Hermela Shimelis1, Romy L.S.
Identification of missense mutation (G365R) of the butyrylcho
Massively parallel functional analysis of missense ...