Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
Article in Clinical Chemistry (September 2023)
The most recent citing publications are shown below. View all 5 publications that cite this research output on Dimensions.
SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome
Article in Neuroendocrinology (February 2023)
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Article in European Journal of Human Genetics (December 2022)