Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1B
Variant:p.L142F
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DCLRE1B

NM_022836.4:p.L142F

Associated Papers

Genetics of human telomere biology disorders.

Revy P et al.

Nature Reviews. Genetics, 2023

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.

Kermasson L et al.

Blood, 2022

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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."