Varaico: Literature-Extracted Genetic Variants

Gene:SRCAP
Variant:p.V2466fs
Back to variants list

SRCAP

NM_006662.3:p.V2466fs

Associated Papers

Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review.

He Q et al.

Bmc Pediatrics, 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

Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review.

Bo H et al.

Frontiers in Pediatrics, 2021

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."