Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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Descrição
Molecular and genetic dissection of recursive splicing
Comprehensive characterisation of intronic mis-splicing mutations in human cancers
Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets - ScienceDirect
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
Systematic Analysis of Splice-Site-Creating Mutations in Cancer - ScienceDirect
Martine J. van Belzen's research works Leiden University Medical Centre, Leiden (LUMC) and other places
Comprehensive characterisation of intronic mis-splicing mutations in human cancers
Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data
Evolution of the U2 Spliceosome for Processing Numerous and Highly Diverse Non-canonical Introns in the Chordate Fritillaria borealis - ScienceDirect
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
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