Selected article for: "compound heterozygous variant and heterozygous variant"

Author: Allison J Cox; Fillan Grady; Gabriel Velez; Vinit B Mahajan; Polly J Ferguson; Andrew Kitchen; Benjamin W Darbro; Alexander G Bassuk
Title: In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
  • Document date: 2018_12_13
  • ID: j5jrpbst_28
    Snippet: The de novo variants identified by Epi4K Consortium and the Epilepsy Phenome/Genome Project (Epi et al., 2013) in the nine probands with either PRTG, TNC, or MACF1 recessive variants are described in Table 2 . For the three patients with compound heterozygous PRTG variants, one patient harbors a de novo missense variant in HSF2, the second has a nonsense variant in CELSR1, and the third patient has two de novo variants -a missense in Fam102A and .....
    Document: The de novo variants identified by Epi4K Consortium and the Epilepsy Phenome/Genome Project (Epi et al., 2013) in the nine probands with either PRTG, TNC, or MACF1 recessive variants are described in Table 2 . For the three patients with compound heterozygous PRTG variants, one patient harbors a de novo missense variant in HSF2, the second has a nonsense variant in CELSR1, and the third patient has two de novo variants -a missense in Fam102A and a 3'UTR variant in USP42. De novo mutations were only reported in one of the probands with in trans TNC variants -a author/funder. All rights reserved. No reuse allowed without permission.

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