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http://hub.abes.fr/oup/periodical/hmg/2000/volume_9/issue_13/101093hmg9132059/authorship/10
http://hub.abes.fr/oup/periodical/hmg/2007/volume_16/issue_12/101093hmgddm099/authorship/12
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Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis
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