Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.N720delFs
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SAMD9

NM_017654.4:p.N720delFs

Associated Papers

Genomic and clinical characterization of adult CVID patients: results from a single-centre turkish cohort.

Yilmaz Tekinhatun H et al.

Immunologic Research, 2025

Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome.

Kızılcan Çetin S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

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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."