Varaico: Literature-Extracted Genetic Variants

Gene:SRCAP
Variant:p.P2426fs
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SRCAP

NM_006662.3:p.P2426fs

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

[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

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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."