Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

Publications 1.3k Datasets 392.5k Experiments 6

System / cell line: height ✕ Assay: mutation ✕ Clear

Mutation patterns of mtDNA: empirical inferences for the coding region.

PMID 18518963 · PMC2438339 · BMC evolutionary biology · 2008 · 5 claims · 3 setups

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Heteroplasmy was detected in 6.5% (3/46) of Azorean families analyzed, all caused by new point mutations with no insertions/deletions.

extended-family same direct electropherogram molecular
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups

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A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family

at-risk eyes blood bbs7 clinical ophthalmologic genetic
Large genomic rearrangements in the CFTR gene contribute to CBAVD.

PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups

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Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening

genomic pcr cftr semi-quantitative junction direct
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups

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Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.

hispanic hmfs001 family genomic clinical echocardiography ophthalmologic
Analysis of X chromosome inactivation in autism spectrum disorders.

PMID 18361425 · PMC4867005 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 6 claims · 5 setups

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No significant excess of skewed XCI was found in mothers of children with ASD or in affected girls compared to controls

genomic multiplex mecp2 four chromosome non-parametric mutation
Spontaneous mutations in hlyD and tuf genes result in resistance of Dickeya solani IPO 2222 to phage ϕD5 but cause decreased bacterial fitness and virulence in planta.

PMID 37160956 · PMC10169776 · Scientific reports · 2023 · 7 claims · 8 setups

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Spontaneous ΦD5-resistant D. solani mutants DsR34 and DsR207 show significantly reduced virulence and colonization ability in planta compared to wild-type

potato solani planta maceration genome

Experiments

Mutation patterns of mtDNA: empirical inferences for the coding region.

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

Analysis of X chromosome inactivation in autism spectrum disorders.

Spontaneous mutations in hlyD and tuf genes result in resistance of Dickeya solani IPO 2222 to phage ϕD5 but cause decreased bacterial fitness and virulence in planta.