Variations in Nomenclature of Clinical Variants between Annotation Tools.
Sign Up to like & getrecommendations! Published in 2021 at "Laboratory medicine"
DOI: 10.1093/labmed/lmab074
Abstract: BACKGROUND Accurate nomenclature of variants is an essential element for genetic diagnosis and patient care. OBJECTIVE To investigate annotation differences of clinical variants between annotation tools. METHODS We analyzed 218,156 clinical variants from the Human… read more here.
Keywords: annotation tools; variations nomenclature; annotation; variants annotation ... See more keywords
Characteristics of pruritus in various clinical variants of psoriasis: Final report of the binational, multicentre, crossâsectional study
Sign Up to like & getrecommendations! Published in 2023 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.18850
Abstract: Pruritus, which is the most frequent subjective symptom of psoriasis, may cause significant discomfort, embarrassment and even interfere with patients normal daily activities. However, the perception of itch in various psoriasis subtypes remains unknown. read more here.
Keywords: various clinical; clinical variants; characteristics pruritus; pruritus various ... See more keywords
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
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DOI: 10.1242/bio.059707
Abstract: GDAP1 pathogenic variants cause Charcot-Marie-Tooth (CMT) disease, the most common hereditary motor and sensory neuropathy. CMT-GDAP1 can be axonal or demyelinating, with autosomal dominant or recessive inheritance, leading to phenotypic heterogeneity. Recessive GDAP1 variants cause… read more here.
Keywords: gdap1 clinical; clinical variants; membrane; differential effects ... See more keywords
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
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DOI: 10.3390/ijms232112850
Abstract: Inborn errors of metabolism (IEM) constitute a huge group of rare diseases affecting 1 in every 1000 newborns. Next-generation sequencing has transformed the diagnosis of IEM, leading to its proposed use as a second-tier technology… read more here.
Keywords: identification clinical; inborn errors; errors metabolism; diagnosis ... See more keywords