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  1. Acum 6 zile · OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.

  2. Acum 5 zile · Summary. This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation.

  3. 8 iul. 2024 · Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair.

  4. 5 iul. 2024 · To address these challenges, the National Center for Biotechnology Information (NCBI) has created NCBI Datasets. This resource provides straightforward, comprehensive, and scalable access to...

  5. 24 iun. 2024 · GenBase also provides a unique Excel format for metadata description and feature annotation of nucleotide sequences, along with a real-time data validation system to streamline sequence submissions. As of April 23, 2024, GenBase received 68,251 nucleotide sequences and 689,574 annotated protein sequences across 414 species from 2319 submissions.

  6. 20 iun. 2024 · GenBank release 261.0 (6/18/2024) is now available on the NCBI FTP site. This release has 32.04 trillion bases and 4.51 billion records. The current release has: 251,094,334 traditional records containing 3,387,240,663,231 base pairs of sequence data. 3,380,877,515 WGS records containing 27,900,199,328.,333 base pairs of sequence data.

  7. 8 iul. 2024 · The HGNC is a resource for approved human gene nomenclature containing ~42000 gene symbols and names and 1300+ gene families and sets.

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