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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPESP1

Variant:p.L6L

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SPESP1

NM_145658.4:p.L6L

hg38:chr15:68930671 T>G

Associated Papers

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Shahzad M et al.

Scientific Reports, 2017

28266639 (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."