Varaico: Literature-Extracted Genetic Variants

Gene:PKD1L1
Variant:p.E2829Q
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PKD1L1

NM_138295.5:p.E2829Q

Associated Papers

Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.

Sok P et al.

American Journal of Medical Genetics. Part A, 2023

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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."