Showing 1 - 2 results of 2 for search '"Compound heterozygous"', query time: 0.02s Refine Results
  1. 1
    Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

    Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients by Lane Fitzsimmons, Undiagnosed Diseases Network, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

    Published 2025-01-01
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  2. 2
    Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma

    Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma by CAO Yuanyuan, YUAN Zhaojun, JIN Chuanyang, WANG Tianzi, LIAO Xiaojie, LIU Hong

    Published 2025-01-01
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