Varaico: Literature-Extracted Genetic Variants

Gene:SRCAP
Variant:p.R2421fs
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SRCAP

NM_006662.3:p.R2421fs

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

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

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.

Homma TK et al.

Hormone Research in Paediatrics, 2019

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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."