Varaico: Literature-Extracted Genetic Variants

Gene:CENPT
Variant:p.P441A
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CENPT

NM_025082.4:p.P441A

Associated Papers

Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.

Yang D et al.

Frontiers in Genetics, 2021

34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

Hung CY et al.

Plos One, 2017

29228025 (PubMed )
Supplement: pone.0189324.s003.pdf
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