Varaico: Literature-Extracted Genetic Variants

Gene:SRCAP
Variant:p.S2578fs
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SRCAP

NM_006662.3:p.S2578fs

Associated Papers

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

Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.

Son HW et al.

Annals of Pediatric Endocrinology & Metabolism, 2020

The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing.

Choi EM et al.

Korean Journal of Pediatrics, 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."