FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4282930983> ?p ?o ?g. }

• W4282930983 endingPage "104537" @default.
• W4282930983 startingPage "104537" @default.
• W4282930983 abstract "Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with congenital bone fractures, hypotonia, and muscular dystrophy in a total of 22 unrelated families. Upon exome sequencing and data repository mining, we identified six new patients with pathogenic homozygous variants in either TRIP4 (n = 4, two novel variants) or ASCC1 (n = 2, one novel variant). The associated clinical findings confirm and extend previous descriptions. Considering all patients reported to date, we provide supporting evidence suggesting that ASCC1-related disease has a more severe phenotype compared to TRIP4-related disorder regarding higher incidence of perinatal bone fractures and shorter survival." @default.
• W4282930983 created "2022-06-16" @default.
• W4282930983 creator A5000546233 @default.
• W4282930983 creator A5006568903 @default.
• W4282930983 creator A5013391731 @default.
• W4282930983 creator A5031556803 @default.
• W4282930983 creator A5041156800 @default.
• W4282930983 creator A5045829887 @default.
• W4282930983 creator A5049537539 @default.
• W4282930983 creator A5050811390 @default.
• W4282930983 creator A5062682232 @default.
• W4282930983 creator A5063269543 @default.
• W4282930983 creator A5067015676 @default.
• W4282930983 creator A5070381034 @default.
• W4282930983 creator A5076759661 @default.
• W4282930983 creator A5077398037 @default.
• W4282930983 creator A5079349535 @default.
• W4282930983 creator A5084778331 @default.
• W4282930983 creator A5086201841 @default.
• W4282930983 creator A5087304778 @default.
• W4282930983 date "2022-08-01" @default.
• W4282930983 modified "2023-10-14" @default.
• W4282930983 title "Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease" @default.
• W4282930983 cites W2072924157 @default.
• W4282930983 cites W2103067740 @default.
• W4282930983 cites W2104382960 @default.
• W4282930983 cites W2276471645 @default.
• W4282930983 cites W2330052944 @default.
• W4282930983 cites W2541585197 @default.
• W4282930983 cites W2555971108 @default.
• W4282930983 cites W2556048034 @default.
• W4282930983 cites W2589155683 @default.
• W4282930983 cites W2740346425 @default.
• W4282930983 cites W2887317632 @default.
• W4282930983 cites W2897390915 @default.
• W4282930983 cites W2900202774 @default.
• W4282930983 cites W2993498657 @default.
• W4282930983 cites W2996771344 @default.
• W4282930983 cites W3011037971 @default.
• W4282930983 cites W3157487469 @default.
• W4282930983 cites W3164608931 @default.
• W4282930983 cites W3171445599 @default.
• W4282930983 doi "https://doi.org/10.1016/j.ejmg.2022.104537" @default.
• W4282930983 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35690317" @default.
• W4282930983 hasPublicationYear "2022" @default.
• W4282930983 type Work @default.
• W4282930983 citedByCount "1" @default.
• W4282930983 crossrefType "journal-article" @default.
• W4282930983 hasAuthorship W4282930983A5000546233 @default.
• W4282930983 hasAuthorship W4282930983A5006568903 @default.
• W4282930983 hasAuthorship W4282930983A5013391731 @default.
• W4282930983 hasAuthorship W4282930983A5031556803 @default.
• W4282930983 hasAuthorship W4282930983A5041156800 @default.
• W4282930983 hasAuthorship W4282930983A5045829887 @default.
• W4282930983 hasAuthorship W4282930983A5049537539 @default.
• W4282930983 hasAuthorship W4282930983A5050811390 @default.
• W4282930983 hasAuthorship W4282930983A5062682232 @default.
• W4282930983 hasAuthorship W4282930983A5063269543 @default.
• W4282930983 hasAuthorship W4282930983A5067015676 @default.
• W4282930983 hasAuthorship W4282930983A5070381034 @default.
• W4282930983 hasAuthorship W4282930983A5076759661 @default.
• W4282930983 hasAuthorship W4282930983A5077398037 @default.
• W4282930983 hasAuthorship W4282930983A5079349535 @default.
• W4282930983 hasAuthorship W4282930983A5084778331 @default.
• W4282930983 hasAuthorship W4282930983A5086201841 @default.
• W4282930983 hasAuthorship W4282930983A5087304778 @default.
• W4282930983 hasConcept C104317684 @default.
• W4282930983 hasConcept C10590036 @default.
• W4282930983 hasConcept C126322002 @default.
• W4282930983 hasConcept C127716648 @default.
• W4282930983 hasConcept C16671776 @default.
• W4282930983 hasConcept C180754005 @default.
• W4282930983 hasConcept C2779030066 @default.
• W4282930983 hasConcept C2779134260 @default.
• W4282930983 hasConcept C2779546488 @default.
• W4282930983 hasConcept C54355233 @default.
• W4282930983 hasConcept C60644358 @default.
• W4282930983 hasConcept C71924100 @default.
• W4282930983 hasConcept C86803240 @default.
• W4282930983 hasConceptScore W4282930983C104317684 @default.
• W4282930983 hasConceptScore W4282930983C10590036 @default.
• W4282930983 hasConceptScore W4282930983C126322002 @default.
• W4282930983 hasConceptScore W4282930983C127716648 @default.
• W4282930983 hasConceptScore W4282930983C16671776 @default.
• W4282930983 hasConceptScore W4282930983C180754005 @default.
• W4282930983 hasConceptScore W4282930983C2779030066 @default.
• W4282930983 hasConceptScore W4282930983C2779134260 @default.
• W4282930983 hasConceptScore W4282930983C2779546488 @default.
• W4282930983 hasConceptScore W4282930983C54355233 @default.
• W4282930983 hasConceptScore W4282930983C60644358 @default.
• W4282930983 hasConceptScore W4282930983C71924100 @default.
• W4282930983 hasConceptScore W4282930983C86803240 @default.
• W4282930983 hasIssue "8" @default.
• W4282930983 hasLocation W42829309831 @default.
• W4282930983 hasLocation W42829309832 @default.
• W4282930983 hasOpenAccess W4282930983 @default.
• W4282930983 hasPrimaryLocation W42829309831 @default.
• W4282930983 hasRelatedWork W1983406990 @default.

• next