Varaico: Literature-Extracted Genetic Variants

Gene:SRCAP
Variant:p.P2465delFs
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SRCAP

NM_006662.3:p.P2465delFs

Associated Papers

Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.

Yang W et al.

European Journal of Pediatrics, 2026

The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.

Prada E et al.

Genes, 2025

39858651 (PubMed )
Supplement: genes-16-00104-s001.zip › genes-3365858-supplementary.pdf

Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review.

Turkunova ME et al.

Frontiers in Genetics, 2022

Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.

Aleo S et al.

Frontiers in Cell and Developmental Biology, 2020

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.

Zhang S et al.

Orphanet Journal of Rare Diseases, 2019

Perthes disease: A new finding in Floating-Harbor syndrome.

Milani D et al.

American Journal of Medical Genetics. Part A, 2018

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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."