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https://www.iris.unina.it/handle/11588/158308
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor...
missense mutationsof thetranscription factorabolishingdna
https://www.burlo.trieste.it/ricerca/pubblicazioni/modeling-effect-3-missense-agxt-mutations-on-dimerization-agt-enzyme-primary-hyperoxaluria-type-1
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary...
the effectmodelingmissenseagxtmutations
https://knova.um.edu.my/research_publications_2021_2025/1237/
"A Novel De Novo NFKBIA missense mutation associated to ectodermal dysp" by Chai Teng Chear, Bader...
Inborn errors of immunity (IEIs) are comprised of heterogeneous groups of genetic disorders affecting immune function. In this report, a 17-month-old Malay...
de novomissense mutationnovelnfkbiaassociated
https://scholarlyexchange.childrensmercy.org/papers/3253/
"A pore-localizing CACNA1C-E1115K missense mutation, identified in a pa" by Dan Ye, David J. Tester...
Background: Gain-of-function variants in the CACNA1C-encoded L-type calcium channel (LTCC, Cav1.2) cause type 8 long QT syndrome (LQT8). The pore region...
missense mutationdavid jporelocalizingidentified
https://research.uni-luebeck.de/en/publications/association-of-a-missense-change-in-the-d2-dopamine-receptor-with/
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia - University...
of ain thedopamine receptormyoclonus dystoniaassociation
https://content.jci.org/articles/view/207998/sd/3
JCI Insight - De novo VPS16 missense variant causes infantile-onset dystonia with defective...
jci insightde novomissense variantcausesinfantile
https://iris.unife.it/handle/11392/463082
A RECURRENT MISSENSE MUTATION (Arg - Gln) AND A PARTIAL DELETION IN FACTOR VIII GENE CAUSING...
missense mutationfactor viiirecurrentarggln
https://starfos.tacr.cz/cs/vysledky-vyzkumu/RIV%2F00064203%3A_____%2F23%3A10449335
Starfos | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the...
TA ČR Starfos je fulltextový vyhledávač, který nabízí vyhledávání ve výzkumných projektech podpořených z veřejných prostředků České republiky, ve výsledcích...
neurodevelopmentalepilepsyphenotypesindividualsmissense
https://content.jci.org/articles/view/207998/sd/1
JCI Insight - De novo VPS16 missense variant causes infantile-onset dystonia with defective...
jci insightde novomissense variantcausesinfantile
https://digitalcommons.library.tmc.edu/baylor_docs/2321/
"A De Novo Missense Variant in EZH1 Associated With Developmental Delay" by Sharayu V Jangam,...
EZH1, a polycomb repressive complex-2 component, is involved in a myriad of cellular processes. EZH1 represses transcription of downstream target genes through...
de novomissense variantassociated withdevelopmental delayjangam
https://research.birmingham.ac.uk/en/publications/a-missense-mutation-in-the-human-cytochrome-b5-gene-causes-46xy-d/
A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to...
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https://researchdiscovery.drexel.edu/esploro/outputs/journalArticle/Missense-variant-contribution-to-USP9X-female-syndrome/991019169109004721
Missense variant contribution to USP9X-female syndrome - Drexel University
Dec 9, 2020 - USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females....
missense variantdrexel universitycontributionfemalesyndrome
https://www.techtransfer.nih.gov/patent/e-209-1997-0-us-02
DELAYED PROGRESSION TO AIDS BY A MISSENSE ALLELE OF THE CCR2 GENE | Technology Transfer
by aof thegene technologydelayedprogression
https://scholar.nycu.edu.tw/zh/publications/incorporating-the-amino-acid-properties-to-predict-the-significan/
Incorporating the amino acid properties to predict the significance of missense mutations -...
amino acidmissense mutationsincorporatingpropertiespredict
https://v21.proteinatlas.org/search/protein_class:COSMIC+Missense+Mutations+AND+with_antibodies:Yes
Search: protein_class:COSMIC Missense Mutations AND with_antibodies:Yes - The Human Protein Atlas
missense mutationshuman atlassearchproteinclass
https://art.torvergata.it/handle/2108/46429
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by...
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