Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.T5530M
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AHNAK2

NM_138420.4:p.T5530M

Associated Papers

A renal cell carcinoma tumorgraft platform to advance precision medicine.

Elias R et al.

Cell Reports, 2021

34818533 (PubMed )
Supplement: NIHMS1761779-supplement-Table_S8.xlsx › Sheet1

Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.

Hu Y et al.

Frontiers in Endocrinology, 2021

34054720 (PubMed )
Supplement: Table_1.xlsx › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1045.400
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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."