Varaico: Literature-Extracted Genetic Variants

Gene:SLC9B1
Variant:p.I292F
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SLC9B1

NM_139173.4:p.I292F

Associated Papers

Genetic variants in patients with multiple arterial aneurysms.

Körfer D et al.

Langenbeck's Archives of Surgery, 2024

39382597 (PubMed )
Supplement: 423_2024_3488_MOESM2_ESM.xlsx › Supplemental_Table_2

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP et al.

Scientific Reports, 2014

25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
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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."