De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia
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DOI: 10.1111/cge.13807
Abstract: We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous variants in these patients, c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg),… read more here.
Keywords: missense variants; variants rap1b; syndromic thrombocytopenia; rap1b gene ... See more keywords
The HLA‐B*15:02:01:05 allele identified by two next‐generation sequencing methods in a Japanese individual
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DOI: 10.1111/tan.14719
Abstract: HLA‐B*15:02:01:05 differs from HLA‐B*15:02:01:01 by four nucleotides in 3′UTR at positions 3435, 3457, 3472, and 3511. read more here.
Keywords: allele identified; hla; identified two; two next ... See more keywords