Varaico: Literature-Extracted Genetic Variants

Gene:BIK
Variant:p.L143_P149del0
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BIK

NM_001197.5:p.L143_P149del0

Associated Papers

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Machnicki MM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants

Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.

Ryland GL et al.

Genome Medicine, 2015

26257827 (PubMed )
Supplement: 13073_2015_210_MOESM1_ESM.xlsx › Table_S3

High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias.

Waterfall JJ et al.

Nature Genetics, 2014

24241536 (PubMed )
Supplement: NIHMS533714-supplement-2.xls › allNovelNotinCleanNormalsProtAl
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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."