- "Variable po****tion
prevalence estimates of
germline TP53 variants: A
gnomAD-based analysis".
Human Mutation. 40 (1): 97–105. doi:10.1002/humu.23673...
-
ethnic groups NHLBI-ESP: from 6500 exomes, use
three po****tion
groupings gnomAD allele frequency: with
allele frequencies for
multiple po****tions For disease-specific...
- 23506–10. doi:10.1074/jbc.c100219200. PMID 11340066. "SI sucrase-isomaltase".
gnomAD.
Broad Institute.
Boney A,
Elser HE,
Silver HJ (2018). "Relationships among...
-
regulatory regions dbSNP, RefSeq, UniProt, COSMIC, PDBe, 1000 Genomes,
gnomAD,
PubMed https://www.ensembl.org/info/docs/tools/vep/index.html
ANNOVAR This...
- 2006 Dark
Corners Priest 2 2007
Irina Palm Dave 2009 The
Nutcracker in 3D
Gnomad 2010
London Boulevard Heavy One 2012
Would You
Rather Bevans 2013 Gangster...
-
Yulia Vysotskaya as Louise, Mary's
mother / The Snow
Fairy Jonny Coyne as
Gnomad Peter Elliott and
Daniel Pea**** as
Gielgud Alan Cox as the
voice of Gielgud...
-
information from peer-reviewed
papers and
publicly available databases like
gnomAD and Ensembl.
Variants can be
annotated with
information about genomic features...
-
paraplegia - SPG11 with the
disease of the same name and ZFYVE26 with SPG15.
GnomAD reports an
observed v.
expected ratio of
predicted loss-of-function variants...
-
Bioinformatics https://www.sib.swiss/about/funding-sources UniProt, Cellosaurus,
Gnomad, IntAct, SRAA Atlas,
Uniprot - GOA, BGEE, COSMIC, M****IVE,
Peptide atlas...
- 1093/glycob/cws217 "VCV000805980.2 -
ClinVar - NCBI". www.ncbi.nlm.nih.gov. "
gnomAD".
gnomad.broadinstitute.org. "UGDH UDP-glucose 6-dehydrogenase [Homo sapiens...
