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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LMNA

Variant:p.T91_D93del3

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LMNA

NM_170707.4:p.T91_D93del3

hg38:chr1:156115188 GACCCTTGAC>G

Associated Papers

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

Karaoglu P et al.

Brain & Development, 2017

27876398 (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."