Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.P402delFs
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KMT2B

NM_014727.3:p.P402delFs

Associated Papers

[Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients].

Ramón-Gómez JL et al.

Revista De Neurologia, 2024

Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: Case report

Rangel YA et al.

Biomedica : Revista Del Instituto Nacional De Salud, 2022

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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."