five

Description of low penetrance families.

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NIAID Data Ecosystem2026-03-09 收录
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https://figshare.com/articles/dataset/Description_of_low_penetrance_families_/3078424
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DER: disease-eye ratio (see text for details). Nomenclature follows HGVS rules using the reference sequence NM_000321.2. Previously published families are indicated. Pedigrees F6, F7, F16, F17, F20-22 were from our series and have been published in part (see text for details). Families F14 and F15 were removed from statistical analysis (see text for details).
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2016-03-01
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