Difference between revisions of "PAH R158Q"
From Bioinformatikpedia
(Created page with "== Source == If a mutation was annotated in HGMD to cause phenylketonuria, it was defined as disease causing. * [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD] == Literatur…") |
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== Source == |
== Source == |
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| − | If a mutation was annotated |
+ | If a mutation was annotated to cause phenylketonuria in HGMD, it was defined as a phenylketonuria causing mutation. |
* [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD] |
* [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD] |
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Latest revision as of 14:42, 17 August 2011
Source
If a mutation was annotated to cause phenylketonuria in HGMD, it was defined as a phenylketonuria causing mutation.
Literature
The mutation causes phenylketonuria.
Predictions
For the mutation were several predictions done.
