Varaico: Literature-Extracted Genetic Variants

Gene:H3-3B
Variant:p.*137delFs
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H3-3B

NM_005324.5:p.*137delFs

Associated Papers

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.

Okur V et al.

Npj Genomic Medicine, 2021

Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders.

Rossi JJ et al.

Scientific Reports, 2021

33758288 (PubMed )
Supplement: 41598_2021_86041_MOESM1_ESM.pdf
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