Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.Q182Splc
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HNF1B

NM_000458.4:p.Q182Splc

Associated Papers

A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.

Hsueh SJ et al.

Bmc Neurology, 2017

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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."