Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.S750del1
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ATRX

NM_000489.6:p.S750del1

Associated Papers

A pan-cancer landscape of telomeric content shows that RAD21 and HGF alterations are associated with longer telomeres.

Sharaf R et al.

Genome Medicine, 2022

35227290 (PubMed )
Supplement: 13073_2022_1029_MOESM1_ESM.xlsx › Table_S5_-_ATRX

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Truty R et al.

Epilepsia Open, 2019

31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Gallo V et al.

Frontiers in Immunology, 2016

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