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Showing 1 to 2 of 2 for “"COL6A5"”.

  1. Functional Analysis of Genomic Variation and Impact on Molecular and Higher Order Phenotypes

    … to novel phenotypes (Ahr, Fh1, Entpd2, and Col6a5). However, our most striking and consistent finding is that apparently deleterious homozygous SNPs, indels, and structural variants have undetectable or very modest additive effects on phenotypes.</p>

    tenn-hsc Repository record for Functional Analysis of Genomic Variation and Impact on Molecular and Higher Order Phenotypes (opens in a new tab)

  2. Deep forward and reverse phenotyping for genetic discovery in pulmonary arterial hypertension.

    … a strong association with a new candidate gene, COL6A5. While BMPR2, TBX4, EIF2AK4, ACVRL1 and AQP1 showed the highest association (PP≥0.99), I also confirmed significant associations in the majority of other previously identified genes. High impact variants in the KDR were associated with a …

    cambridge Repository record for Deep forward and reverse phenotyping for genetic discovery in pulmonary arterial hypertension. (opens in a new tab)