Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.G1218Splc
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RTEL1

NM_016434.4:p.G1218Splc

Associated Papers

Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.

Maksiutenko EM et al.

Physiological Reports, 2024

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