Varaico: Literature-Extracted Genetic Variants

Gene:BCAP31
Variant:p.L111_L112insFs
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BCAP31

NM_001256447.2:p.L111_L112insFs

Associated Papers

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Lionel AC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.

Albanyan S et al.

American Journal of Medical Genetics. Part A, 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."