DNA sequence analysis of the NF1 gene demonstrated an insertion/deletion event, c.4074_4075delinsAA, in exon 30 that results in an amino acid change, p.
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Word Variants Case Sensitive. Search Only: Titles Summaries Actions. Congress (Years). 1973-2024 Tip Historical (1799-1811, 1813-1873, 1951-1972) Tip. 93-118 ...
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Variants for RF00017-4074 Gene. Structural Variations from Database of Genomic Variants (DGV) for RF00017-4074 Gene. Variant ID, Type, Subtype, PubMed ID ...
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7 янв. 2024 г. ... ... variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X ...
www.ncbi.nlm.nih.govVariant Characterization of a Representative Large Pedigree Suggests "Variant Risk Clusters" Convey Varying Predisposition of Risk to Lynch Syndrome.
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