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