PAH R71H

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Revision as of 14:15, 17 August 2011 by Meier (talk | contribs) (Literature)

Source

If a mutation was listed in dbSNP and not annotated in HGMD to cause phenylketonuria, it was defined as neutral.

Literature

The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria.

Predictions

For the mutation were several predictions done.