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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIGL

Variant:p.K220_K221Splc

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PIGL

NM_004278.4:p.K220_K221Splc

hg38:chr17:16317909 G>T

Associated Papers

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Hardcastle A et al.

American Journal of Medical Genetics. Part A, 2022

35904974 (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."