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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLI2

Variant:p.E380_L384del0

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GLI2

NM_001374353.1:p.E380_L384del0

hg38:chr2:120972018 CGAGCCTGAGGGCCTG>C

Associated Papers

Cohesin complex-associated holoprosencephaly.

Kruszka P et al.

Brain : a Journal of Neurology, 2019

31334757 (PubMed )

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