Varaico: Literature-Extracted Genetic Variants

Gene:SPINK5
Variant:p.R217Q
Back to variants list

SPINK5

NM_006846.4:p.R217Q

Associated Papers

Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology.

Clark LN et al.

Ebiomedicine, 2022

36183486 (PubMed )
Supplement: mmc1.xlsx › RV_NPL_per_family

Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs.

Letko A et al.

Genes, 2021

33572573 (PubMed )
Supplement: genes-12-00207-s001.zip › supplementary › SupplementaryTableS5_variants_case3.xlsx › Table_S5
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."