Results 141 to 150 of about 371,135 (330)
ChatMolData: A Multimodal Agent for Automatic Molecular Data Processing
Advanced Intelligent Systems, EarlyView.While large language models (LLMs) struggle with molecular data due to single‐modality limitations, ChatMolData—a multimodal agent for processing databases, images, structure files, and documents—is presented. It combines LLMs with tools for retrieval, structuring, prediction, visualization, and search, achieving > 90% accuracy across 128 tasks.
Yi Yu +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini +8 more
wiley +1 more source
beta 0 thalassemia, a nonsense mutation in man. [PDF]
, 1979 Judy C. Chang, Y Kan
openalex +1 more source
Temperature-Sensitive Nonsense Mutations in Essential Genes of Escherichia coli [PDF]
, 1973 David L. Beckman, Stephen Cooper
openalex +1 more source
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti +12 more
wiley +1 more source
A Suppressor of Nonsense Mutations in Bacillus subtilis [PDF]
, 1974 Ana Camacho +4 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
EVIDENCE FOR NONSENSE MUTATIONS IN THE AROM GENE CLUSTER OF NEUROSPORA CRASSA
, 1968 Mary E. Case, Norman H. Giles
openalex +2 more sources
Isolation of nonsense suppressor mutants in Pseudomonas [PDF]
, 1976 Leonard Mindich +2 more
openalex +1 more source
Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio +13 more
wiley +1 more source