Varaico: Literature-Extracted Genetic Variants

Gene:PKD1L3
Variant:p.H571Q
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PKD1L3

NM_181536.2:p.H571Q

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.

Tode N et al.

Cancer Science, 2017

28294470 (PubMed )
Supplement: CAS-108-1263-s001.pdf

Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Tang CS et al.

Nature Communications, 2015

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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."