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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD40LG

Variant:p.A187_K196del10

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CD40LG

NM_000074.3:p.A187_K196del10

hg38:chrX:136659187 AGCTCCATTTATAGCCAGCCTCTGCCTAAAG>A

Associated Papers

A case report of dyskeratosis congenita caused by a novel TERC mutation.

Liang W et al.

Annals of Hematology, 2023

37684378 (PubMed )

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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."