Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.P272L
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MECP2

NM_004992.4:p.P272L

Associated Papers

Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy.

Rinné S et al.

International Journal of Molecular Sciences, 2022

36430690 (PubMed )
Supplement: ijms-23-14215-s001.zip › ijms-1958047-supplementary.pdf

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.

Belot A et al.

The Lancet. Rheumatology, 2020

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