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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.165 | SRCAP |
Achchuthan Shanmugasundram gene: SRCAP was added gene: SRCAP was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRCAP were set to 33288889; 36980886 Review for gene: SRCAP was set to RED Added comment: One individual was described with a stop-gain variant in SRCAP (c.7303C>T; p.Arg2435Ter) in the Norwegian cohort (PMID:33288889). Sources: Literature |
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