Varaico: Literature-Extracted Genetic Variants

Gene:CAV1
Variant:p.H79_S80delFs
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CAV1

NM_001753.5:p.H79_S80delFs

Associated Papers

Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.

Pinc Z et al.

Journal of Clinical Immunology, 2025

41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final

Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.

Karhan AN et al.

European Journal of Endocrinology, 2021

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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."