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Nonsense mutations identified in type 3 VWD patients from India.

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https://figshare.com/articles/dataset/_Nonsense_mutations_identified_in_type_3_VWD_patients_from_India_/977134
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Hmz: Homozygous, Htz: heterozygous, C.Htz: compound heterozygous, +: yes, -: no, nomenclature according to the guidance issued by the Human Genome Variation Society (http://www.hgvs.org/) assessed on 13th September 2013. Font in bold represents -novel mutation.
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2014-03-27
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