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Q50451631-345AB767-D8F3-4273-8D4B-18B026F8DD7A
Q50451631-345AB767-D8F3-4273-8D4B-18B026F8DD7A
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Statement
http://www.wikidata.org/entity/statement/Q50451631-345AB767-D8F3-4273-8D4B-18B026F8DD7A
Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal.
P2860
Q50451631-345AB767-D8F3-4273-8D4B-18B026F8DD7A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50451631-345AB767-D8F3-4273-8D4B-18B026F8DD7A
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wasDerivedFrom
400779b578507deabbbc449919729ab67c3270b5
P2860
The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential