Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.C1096fs
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KAT6A

NM_006766.5:p.C1096fs

Associated Papers

Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.

St John M et al.

American Journal of Medical Genetics. Part A, 2022

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

Urreizti R et al.

Orphanet Journal of Rare Diseases, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."