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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STAR

Variant:p.Q71L

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STAR

NM_000349.3:p.Q71L

hg38:chr8:38148294 T>A

Associated Papers

Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1.

Tong L et al.

Iscience, 2023

37599822 (PubMed )

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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."