Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D32
Variant:p.A739T
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TBC1D32

NM_152730.6:p.A739T

Associated Papers

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.

Fernandez-Luna JL et al.

Molecular Genetics & Genomic Medicine, 2024

38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Kim A et al.

Brain : a Journal of Neurology, 2019

30508070 (PubMed )
Supplement: awy290_supplementary_table_s1.pdf

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5

Identification of NCAN as a candidate gene for developmental dyslexia.

Einarsdottir E et al.

Scientific Reports, 2017

28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM4_ESM.xls › 3821-rare_exonic_variants

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1

Low-grade prostate cancer diverges early from high grade and metastatic disease.

VanderWeele DJ et al.

Cancer Science, 2014

24890684 (PubMed )
Supplement: cas0105-1079-SD1.xlsx › Table_S2
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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."