Varaico: Literature-Extracted Genetic Variants

Gene:POMT1
Variant:p.V41Splc
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POMT1

NM_001077365.2:p.V41Splc

Associated Papers

Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system-trends observed from a single genetic unit.

Iyer GR et al.

Journal of Orthopaedic Surgery and Research, 2022

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Ozgencil M et al.

Plos One, 2021

34855882 (PubMed )
Supplement: pone.0260852.s015.xlsx › iG462R_1
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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."