Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.R487H
Back to variants list

SPECC1L

NM_015330.6:p.R487H

Associated Papers

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

Migliore C et al.

Genes, 2022

A flexible computational pipeline for research analyses of unsolved clinical exome cases.

Lassmann T et al.

Npj Genomic Medicine, 2020

33303739 (PubMed )
Supplement: 41525_2020_161_MOESM2_ESM.xlsx › Table_S2_03Jun20_SNG

Mutation profiling in eight cases of vagal paragangliomas.

Kudryavtseva AV et al.

Bmc Medical Genomics, 2020

32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat2

Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches.

Backhouse B et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019

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."