-
ClinVar is a
public archive with free
access to
reports on the
relationships between human variations and phenotypes, with
supporting evidence. The database...
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databases that labs use to
deposit their diagnostic findings, such as
ClinVar, can be used to
build knowledge graphs to
explore the
clinical feature...
- with
advanced prostate cancer.
Color contributes anonymized variants to
ClinVar, a free
database managed by the
National Center for
Biotechnology Information...
- -
ClinVar - NCBI".
Retrieved 2017-09-16. G">"NM_002454.2(MTRR):c.1349C>G (p.Pro450Arg) AND
Disorders of
Intracellular Cobalamin Metabolism -
ClinVar -...
- 2023-02-28. "NM_000142.4(FGFR3):c.1950G>C (p.Lys650Asn) AND
Hypochondroplasia -
ClinVar - NCBI". www.ncbi.nlm.nih.gov.
Retrieved 21
December 2016. Reference, Genetics...
- PMC 5473067. PMID 28626366. "NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)".
ClinVar Genomic variation as it
relates to
human health. U.S.
National Library...
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representation of the intron-exon
organization of
tyrosinase (TYP) gene in
humans (
ClinVar: NM_ 000372). Open and
closed boxes represent protein-coding and untranslated...
-
Genome project) dbSNP: The
Single Nucleotide Polymorphism Database ClinVar:
ClinVar archives and
aggregates information about relationships among variation...
- 24
other tissues. 22
variants have been
annotated in the NIH Database,
ClinVar,
linked to
disease conditions such as seizures,
developmental delay, and...
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deleterious genetic variant prediction scores from
programs such as PolyPhen,
ClinVar, and CADD and
annotates the SNVs, insertions, deletions, and CNVs of the...
