Varaico: Literature-Extracted Genetic Variants

Gene:SH3PXD2B
Variant:p.A272T
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SH3PXD2B

NM_001017995.3:p.A272T

Associated Papers

Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.

Sun Y et al.

Archives of Iranian Medicine, 2023

38310436 (PubMed )
Supplement: aim-26-346-s001.pdf

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM8_ESM.xlsx › Deleterious_variants

Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.

Dong X et al.

American Journal of Medical Genetics. Part A, 2022

35801299 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
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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."