Varaico: Literature-Extracted Genetic Variants

Gene:H3-3A
Variant:p.T46I
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H3-3A

NM_002107.7:p.T46I

Associated Papers

Paroxysmal Dyskinesia with a Novel Variant in the Histone 3 Family 3B (H3-3B) Gene.

D'Onofrio G et al.

Movement Disorders Clinical Practice, 2026

Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases.

Shan L et al.

Pediatric Research, 2025

40307499 (PubMed )
Supplement: 41390_2025_4085_MOESM1_ESM.xlsx › Sheet1

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Layo-Carris DE et al.

European Journal of Human Genetics : Ejhg, 2024

38678163 (PubMed )
Supplement: 41431_2024_1610_MOESM3_ESM.xlsx › Main_sheet

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Bryant L et al.

Science Advances, 2020

33268356 (PubMed )
Supplement: abc9207_Table_S1.xlsx › Sheet1
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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."