Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1B
Variant:p.T996fs
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CACNA1B

NM_000718.4:p.T996fs

Associated Papers

A novel nonsense variant in MED12 associated with malformations in a female fetus.

Faergeman SL et al.

Clinical Case Reports, 2021

34987808 (PubMed )
Supplement: CCR3-9-e05124-s001.xlsx › _Variants_123__Filter_Variants
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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."