Create issue ticket

9,429 Possible Causes for variant

Show results in: Italiano

  • Pharyngitis

    We found that the CARD8-FS variant led to a truncated CARD8 protein lacking the FIIND and CARD domains.[ncbi.nlm.nih.gov] Twenty-one patients (37.5%) had a single MEFV variant. No significant differences in phenotype were found between patients with and without MEFV variants.[ncbi.nlm.nih.gov] In this study, we performed next-generation sequencing for 82 unrelated PFAPA patients and identified a frameshift variant in the CARD8 gene (CARD8-FS).[ncbi.nlm.nih.gov]

  • Acute Gastroenteritis

    GII.P16-GII.2 variants for sporadic and outbreaks of gastroenteritis in Japan and China before 2016.[ncbi.nlm.nih.gov] KEYWORDS: Acute gastroenteritis; Clinical severity; Genetic diversity; Salivirus; Variant Salivirus A1 strains; Western India[ncbi.nlm.nih.gov] Of the many variants, NoV GII.4 is the most predominant genotype.[ncbi.nlm.nih.gov]

  • Urinary Tract Infection

    Our results indicate that despite the lack of ExPEC virulence markers, EHEC variants may exhibit in certain suitable hosts, e.g., in hospital patients, a uropathogenic potential[ncbi.nlm.nih.gov]

  • Osteoporosis

    Father also has history of backache and was carrier for the same deletion variant. The child was given 3 doses of zoledronate and did not have any further fractures.[ncbi.nlm.nih.gov] Thus, we conclude that this novel variant identified in the child with OI is likely cause for the disease and possibly zoledronate has a role in prevention of fractures in[ncbi.nlm.nih.gov]

  • Adrenal Insufficiency

    […] p.E314K variant in CYP11A1.[ncbi.nlm.nih.gov] In vitro studies confirmed that this variant led to decreased efficiency of CYP11A1 splicing.[ncbi.nlm.nih.gov] Furthermore, expression of WT human SGPL1 rescued growth of SGPL1-deficient dpl1Δ yeast strains, whereas expression of disease-associated variants did not.[ncbi.nlm.nih.gov]

  • Influenza

    ., type and sub-type, gene and whole-genome consensus sequences, variants' annotation, alignments and phylogenetic trees).[ncbi.nlm.nih.gov] In human influenza virus infections, multiple genetic association studies have identified specific human gene variants that might contribute to enhanced susceptibility or[ncbi.nlm.nih.gov] This dual approach is expected to strengthen our ability not only to detect the emergence of antigenic and drug resistance variants but also to decode alternative pathways[ncbi.nlm.nih.gov]

  • Dementia

    People with semantic variant (svPPA) have increasing trouble understanding the meaning of words, finding words or naming people and objects.[memory.ucsf.edu] Abstract Clinical neurologists have long recognized that dementia can present as atypical or variant syndromes/symptoms.[ncbi.nlm.nih.gov] […] compared to the more information- and language-based comedy of George Carlin -- appreciated by patients indicates differences between Alzheimer's disease and behavioral variant[upi.com]

  • Skin Infection

    In addition, the age at disease onset correlated significantly with FLG variants (P .001).[ncbi.nlm.nih.gov] Ecthyma is a variant of impetigo. The lesions, which extend deeper into the dermis, heal with scarring.[apps.who.int] Infections by Candida albicans, especially the variants that are found in the mucous membranes or the genitals, are contagious.[netdoctor.co.uk]

  • Malignant Neoplasm

    Abstract Nineteen cases of a distinctive variant of paraganglioma characterized by extensive collagen deposition resulting in a pattern of growth that resembled an invasive[ncbi.nlm.nih.gov] Abstract Angiomatous meningioma is a rare and distinct meningioma variant characterised with predominance of microvascularcomponent.There are few reported cases in literature[ncbi.nlm.nih.gov] It is acceptable practice to excise aggressive variants of this lesion during pregnancy to avoid distressing side effects.[ncbi.nlm.nih.gov]

  • Streptococcal Infection

    This variant was not detected in 198 controls. Serum CFHR5 levels were reduced.[ncbi.nlm.nih.gov] These polymorphisms constituted 14 csrR and 25 csrS alleles, producing two CsrR and seven CsrS variants, respectively.[ncbi.nlm.nih.gov] Ecthyma is a variant of impetigo. The lesions, which extend deeper into the dermis, heal with scarring.[apps.who.int]

Further symptoms