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Disease table of HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
OMIM ID: 233910
Gene-disease associations table
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Gene
Associated with HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B in
Link to HGNC
Cytogenetic band
Number of associated diseases
Associated diseases
GCH1
ClinVar, OMIM, HUMSAVAR
HGNC link
14q22.2
2
PS128100
,
233910
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