Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.A339V
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LMNA

NM_170707.4:p.A339V

Associated Papers

Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.

Wang J et al.

Pediatric Research, 2024

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.

Grelet M et al.

Orphanet Journal of Rare Diseases, 2019

Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.

He G et al.

Endocrine Journal, 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."