Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.G161E
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MECP2

NM_004992.4:p.G161E

Associated Papers

Genetic Testing for Global Developmental Delay in Early Childhood.

Zhang J et al.

Jama Network Open, 2024

38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.

Sheth F et al.

Bmc Neurology, 2023

37543562 (PubMed )
Supplement: 12883_2023_3341_MOESM1_ESM.xlsx › Primer_pairs

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

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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."