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https://www.ncbi.nlm.nih.gov › clinvar
The p E217G variant also known as c 650A G located in coding exon 6 of the NF1 gene results from an A to G substitution at

http://www.genet.sickkids.on.ca › MutationDetailPage.external
The mutation was detected by heteroduplex analysis in a 2 year old male Polish patient with high sweat cloride 60

https://sugi.bio › variant
This single nucleotide variant alters FANCL at p Glu217Gly in the ubc rwd region urd region FANCL s established role includes
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http://abcm2.hegelab.org › mutationDetails
To engineer R242E and K246N R248E mutations into CF TM3 4R an EcoRI EcoNI fragment encoding TM3 and part of TM4 was

https://sugi.bio › variant
What this gene does HNRNPU roles not per variant effects This single nucleotide variant alters HNRNPU at p Glu217Gly in the

http://genet.sickkids.on.ca
Welcome to the Cystic Fibrosis Mutation Database CFTR1 devoted to the collection of mutations in the CFTR gene for the

https://tbdr.lshtm.ac.uk › variants
Geographic prevalence Country level data for this variant is available for 0 isolates

https://tbdr.lshtm.ac.uk › variants
Geographic prevalence Country level data for this variant is available for 0 isolates

http://abcm2.hegelab.org › publicationView
Due to the variability of the uptake activities in different preparations uptake rates were standardized to 100 which corresponds to
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