Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8D
Variant:p.D12N
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LRRC8D

NM_001134479.2:p.D12N

Associated Papers

Dysregulated ECM remodeling proteins lead to aberrant osteogenesis of Costello syndrome iPSCs.

Choi JB et al.

Stem Cell Reports, 2021

34242618 (PubMed )
Supplement: mmc1.pdf
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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."