Varaico: Literature-Extracted Genetic Variants

Gene:SRCAP
Variant:p.T2425insFs
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SRCAP

NM_006662.3:p.T2425insFs

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

Two iPSC lines with a heterozygous frameshift mutation in the floating-harbour syndrome locus of the SRCAP gene.

Rhode J et al.

Stem Cell Research, 2025

[Clinical and molecular genetic features of cases of Floating-Harbor syndrome].

Makretskaya NA et al.

Problemy Endokrinologii, 2025

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

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

Zhang S et al.

Orphanet Journal of Rare Diseases, 2019

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

Seifert W et al.

Bmc Medical Genetics, 2014

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

Nikkel SM et al.

Orphanet Journal of Rare Diseases, 2013

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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."