Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain [PDF]
, 1993 Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain.
Cassiman, Jean-Jacques +5 more
core +2 more sources
C34T mutation of theAMPD1gene in an elite white runner: Figure 1 [PDF]
Case Reports, 2006 The case is reported of an elite, male, white endurance runner (28 years of age), who is one of the best non-African runners in the world despite carrying the C34T mutation in the gene (AMPD1) that encodes the skeletal muscle specific isoform of AMP deaminase, an enzyme that plays an important role in muscle metabolism.
Alejandro Lucı́a +6 more
openalex +11 more sources
The causal mutation leading to sweetness in modern white lupin cultivars [PDF]
Science Advances, 2023 Lupins are high-protein crops that are rapidly gaining interest as hardy alternatives to soybean; however, they accumulate antinutritional alkaloids of the quinolizidine type (QAs). Lupin domestication was enabled by the discovery of genetic loci conferring low QA levels (sweetness), but the precise identity of the underlying genes remains
Davide Mancinotti +16 more
openaire +5 more sources
Production of mutations in the white-spore strain
Fungal Genetics Reports, 1971 S. S. Wang +2 more
openalex +4 more sources
Molecular characterization of mutations in white-flowered torenia plants [PDF]
BMC Plant Biology, 2014 Torenia (Torenia fournieri Lind.) is a model plant increasingly exploited in studies in various disciplines, including plant engineering, biochemistry, physiology, and ecology. Additionally, cultivars with different flower colors have been bred and made commercially available.
Takashi Nakatsuka +5 more
openaire +3 more sources
A Probabilistic Framework for Mutation Testing in Deep Neural Networks [PDF]
Information and Software Technology. 155 (2023) 107129, 2022 Context: Mutation Testing (MT) is an important tool in traditional Software Engineering (SE) white-box testing. It aims to artificially inject faults in a system to evaluate a test suite's capability to detect them, assuming that the test suite defects finding capability will then translate to real faults.
arxiv +1 more source
White matter involvement in a family with a novel PDGFB mutation [PDF]
Neurology Genetics, 2016 Primary familial brain calcification (PFBC) (formerly idiopathic basal ganglia calcification; Fahr disease) is an autosomal dominant cerebral microvascular calcifying disorder with variable clinical and imaging features.(1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5).
BIANCHERI, ROBERTA +9 more
openaire +4 more sources
Control of astrocyte progenitor specification, migration and maturation by Nkx6.1 homeodomain transcription factor. [PDF]
, 2014 Although astrocytes are the most abundant cell type in the central nervous system (CNS), little is known about their molecular specification and differentiation.
Chen, Yidan +10 more
core +7 more sources
BertRLFuzzer: A BERT and Reinforcement Learning Based Fuzzer [PDF]
Proceedings of the AAAI Conference on Artificial Intelligence,
38(21), 23521-23522 (2024), 2023 We present a novel tool BertRLFuzzer, a BERT and Reinforcement Learning (RL) based fuzzer aimed at finding security vulnerabilities for Web applications. BertRLFuzzer works as follows: given a set of seed inputs, the fuzzer performs grammar-adhering and attack-provoking mutation operations on them to generate candidate attack vectors.
arxiv +1 more source
Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions. [PDF]
Clin Park Relat DisordRifino N +9 more
europepmc +2 more sources