Of the more than 3,000 variants that have been identified in the NF1 gene, only a handful of specific variants can be correlated to certain NF1 symptoms. In this post, I’ll discuss the major known ...
To determine the association between genotype and phenotype in patients with RB, the investigators conducted a single-center retrospective cohort study of 1404 consecutive unrelated individuals ...
New research shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people with the genetic disorder neurofibromatosis type 1, or NF1, the ...
Previous studies have shown that genotype correlates with biochemical phenotype in treated phenylketonuria. If there is a strong correlation between genotype and intellectual phenotype of untreated ...
Bacterial populations pose an intriguing puzzle: in so-called isogenic populations, all bacteria have the same genes, but they still behave differently, for example grow at different speeds.
Northwestern University biophysicists have developed a new computational tool for identifying gene combinations underlying complex illnesses such as diabetes, cancer, and asthma. Unlike single-gene ...
Children's Oncology Group Trial AALL1231: A Phase III Clinical Trial Testing Bortezomib in Newly Diagnosed T-Cell Acute Lymphoblastic Leukemia and Lymphoma Patients with SAs had a mean increase of 120 ...
Depemokimab is an ultra-long-acting biologic therapy with enhanced binding affinity for interleukin-5 that may enable effective 6-month dosing intervals. In these phase 3A, randomized, ...
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