Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.F1262L
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RTEL1

NM_001283009.2:p.F1262L

Associated Papers

Pathogenic TERT promoter variants in telomere diseases.

Gutierrez-Rodrigues F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30523342 (PubMed )
Supplement: 41436_2018_385_MOESM1_ESM.pdf

Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.

Marsh JCW et al.

Blood Advances, 2018

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