Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.L188F
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SPECC1L

NM_015330.6:p.L188F

Associated Papers

SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.

Migliore C et al.

Genes, 2022

Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.

Paracchini L et al.

Alzheimer's Research & Therapy, 2018

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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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."