Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.P322A
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MECP2

NM_004992.4:p.P322A

Associated Papers

Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline.

Kim JA et al.

Journal of Human Genetics, 2022

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.

Kammoun F et al.

Journal of Medical Genetics, 2004

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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."