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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LARP7

Variant:p.T175insFs

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LARP7

NM_016648.4:p.T175insFs

hg38:chr4:112646927 C>CTT

Associated Papers

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

Imbert-Bouteille M et al.

European Journal of Medical Genetics, 2019

30006060 (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."