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  • 1-3 of  3 results for ""Bengani, Hemant""

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Academic Journal

Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia.

Subjects: *GENETIC mutation; *ANIRIDIA; *GENETIC regulation

  • Source: American Journal of Human Genetics. Dec2013, Vol. 93 Issue 6, p1126-1134. 9p.

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Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations.

Subjects: GENETIC mutation; MISSENSE mutation; MICROPHTHALMIA

  • Source: American Journal of Human Genetics. Jun2014, Vol. 94 Issue 6, p915-923. 9p.

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

Subjects: Aniridia/Aniridia/Aniridia/*etiology ; Aniridia/Aniridia/Aniridia/*pathology ; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*etiology Aniridia cerebellar ataxia mental deficiency

  • Source: American journal of human genetics [Am J Hum Genet] 2016 May 05; Vol. 98 (5), pp. 981-992. Date of Electronic Publication: 2016 Apr 21.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-3 of  3 results for ""Bengani, Hemant""