Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.V300I
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MECP2

NM_004992.4:p.V300I

Associated Papers

MECP2 Rare Variants in Boys with Central Precocious Puberty.

Canton APM et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2024

39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND

Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.

Bach S et al.

Scientific Reports, 2020

33335218 (PubMed )
Supplement: 41598_2020_79268_MOESM1_ESM.xlsx › Table_S4

Molecular diagnostic dilemmas in Rett syndrome.

Zvereff V et al.

Brain & Development, 2012

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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."