Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.V273L
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SOX9

NM_000346.4:p.V273L

Associated Papers

Analysis of children with familial short stature: who should be indicated for genetic testing?

Plachy L et al.

Endocrine Connections, 2023

37561071 (PubMed )
Supplement: supplementary_table_3.pdf

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Rego S et al.

Cold Spring Harbor Molecular Case Studies, 2018

30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_3.xlsx › Sheet1

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.

Bonachea EM et al.

Bmc Medical Genomics, 2014

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