Varaico: Literature-Extracted Genetic Variants

Gene:KATNB1
Variant:p.G145fs
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KATNB1

NM_005886.3:p.G145fs

Associated Papers

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.

Yigit G et al.

American Journal of Medical Genetics. Part A, 2016

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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."