Additional file 2 of DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects
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Additional file 2: Table S1. Private homozygous coding variants in the sequenced case. List of the remaining variants after the comparison to the control cohort of 705 genomes of other breeds, revealing 5 protein-changing variants only present in the genome of the ichthyosis-affected calf. These 5 variants with a moderate or high predicted impact on the encoded protein were located within 5 different genes or loci. Note that the predicted pathogenic variant NM_001192368.2: c.6893 C>A is the only one located in a functional candidate gene
创建时间:
2022-01-07



