FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3100236361> ?p ?o ?g. }

• W3100236361 abstract "Abstract Pearson syndrome (PS) is a very rare and often fatal multisystem disease caused by deletions in mitochondrial DNA that result in sideroblastic anemia, vacuolization of marrow precursors, and pancreatic dysfunction. Spontaneous recovery from anemia is often observed within several years of diagnosis. We present the case of a 4‐month‐old male diagnosed with PS who experienced prolonged severe pancytopenia preceding the emergence of monosomy 7. Whole‐exome sequencing identified two somatic mutations, including RUNX1 p.S100F that was previously reported as associated with myeloid malignancies. The molecular defects associated with PS may have the potential to progress to advanced myelodysplastic syndrome ." @default.
• W3100236361 created "2020-11-23" @default.
• W3100236361 creator A5003808171 @default.
• W3100236361 creator A5005181796 @default.
• W3100236361 creator A5012027495 @default.
• W3100236361 creator A5030942209 @default.
• W3100236361 creator A5031014013 @default.
• W3100236361 creator A5040079244 @default.
• W3100236361 creator A5042588749 @default.
• W3100236361 creator A5052986225 @default.
• W3100236361 creator A5057568391 @default.
• W3100236361 creator A5079592975 @default.
• W3100236361 creator A5081301408 @default.
• W3100236361 creator A5088167618 @default.
• W3100236361 date "2020-11-16" @default.
• W3100236361 modified "2023-10-18" @default.
• W3100236361 title "Acquisition of monosomy 7 and a <i>RUNX1</i> mutation in Pearson syndrome" @default.
• W3100236361 cites W1663740507 @default.
• W3100236361 cites W1676794345 @default.
• W3100236361 cites W1989840284 @default.
• W3100236361 cites W1990368793 @default.
• W3100236361 cites W1992803617 @default.
• W3100236361 cites W2005394723 @default.
• W3100236361 cites W2016644845 @default.
• W3100236361 cites W2018088754 @default.
• W3100236361 cites W2032628875 @default.
• W3100236361 cites W204985074 @default.
• W3100236361 cites W2059347013 @default.
• W3100236361 cites W2062000969 @default.
• W3100236361 cites W2078729110 @default.
• W3100236361 cites W2108249391 @default.
• W3100236361 cites W2140196635 @default.
• W3100236361 cites W2399654760 @default.
• W3100236361 cites W2419140434 @default.
• W3100236361 cites W2553468399 @default.
• W3100236361 cites W2561161989 @default.
• W3100236361 cites W2589411765 @default.
• W3100236361 cites W2767347576 @default.
• W3100236361 cites W2795452451 @default.
• W3100236361 cites W2827052344 @default.
• W3100236361 cites W2905667684 @default.
• W3100236361 cites W2983882200 @default.
• W3100236361 doi "https://doi.org/10.1002/pbc.28799" @default.
• W3100236361 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33200495" @default.
• W3100236361 hasPublicationYear "2020" @default.
• W3100236361 type Work @default.
• W3100236361 sameAs 3100236361 @default.
• W3100236361 citedByCount "9" @default.
• W3100236361 countsByYear W31002363612021 @default.
• W3100236361 countsByYear W31002363612022 @default.
• W3100236361 countsByYear W31002363612023 @default.
• W3100236361 crossrefType "journal-article" @default.
• W3100236361 hasAuthorship W3100236361A5003808171 @default.
• W3100236361 hasAuthorship W3100236361A5005181796 @default.
• W3100236361 hasAuthorship W3100236361A5012027495 @default.
• W3100236361 hasAuthorship W3100236361A5030942209 @default.
• W3100236361 hasAuthorship W3100236361A5031014013 @default.
• W3100236361 hasAuthorship W3100236361A5040079244 @default.
• W3100236361 hasAuthorship W3100236361A5042588749 @default.
• W3100236361 hasAuthorship W3100236361A5052986225 @default.
• W3100236361 hasAuthorship W3100236361A5057568391 @default.
• W3100236361 hasAuthorship W3100236361A5079592975 @default.
• W3100236361 hasAuthorship W3100236361A5081301408 @default.
• W3100236361 hasAuthorship W3100236361A5088167618 @default.
• W3100236361 hasBestOaLocation W31002363612 @default.
• W3100236361 hasConcept C104317684 @default.
• W3100236361 hasConcept C109159458 @default.
• W3100236361 hasConcept C126322002 @default.
• W3100236361 hasConcept C134935766 @default.
• W3100236361 hasConcept C142724271 @default.
• W3100236361 hasConcept C16671776 @default.
• W3100236361 hasConcept C2778124228 @default.
• W3100236361 hasConcept C2778193527 @default.
• W3100236361 hasConcept C2778248108 @default.
• W3100236361 hasConcept C2779142324 @default.
• W3100236361 hasConcept C2779188306 @default.
• W3100236361 hasConcept C2779382419 @default.
• W3100236361 hasConcept C2780007613 @default.
• W3100236361 hasConcept C2780366003 @default.
• W3100236361 hasConcept C2781440808 @default.
• W3100236361 hasConcept C28328180 @default.
• W3100236361 hasConcept C30481170 @default.
• W3100236361 hasConcept C501734568 @default.
• W3100236361 hasConcept C53226629 @default.
• W3100236361 hasConcept C54355233 @default.
• W3100236361 hasConcept C552990157 @default.
• W3100236361 hasConcept C71924100 @default.
• W3100236361 hasConcept C86803240 @default.
• W3100236361 hasConceptScore W3100236361C104317684 @default.
• W3100236361 hasConceptScore W3100236361C109159458 @default.
• W3100236361 hasConceptScore W3100236361C126322002 @default.
• W3100236361 hasConceptScore W3100236361C134935766 @default.
• W3100236361 hasConceptScore W3100236361C142724271 @default.
• W3100236361 hasConceptScore W3100236361C16671776 @default.
• W3100236361 hasConceptScore W3100236361C2778124228 @default.
• W3100236361 hasConceptScore W3100236361C2778193527 @default.
• W3100236361 hasConceptScore W3100236361C2778248108 @default.
• W3100236361 hasConceptScore W3100236361C2779142324 @default.
• W3100236361 hasConceptScore W3100236361C2779188306 @default.
• W3100236361 hasConceptScore W3100236361C2779382419 @default.

• next