Varaico: Literature-Extracted Genetic Variants

Gene:BMP1
Variant:p.R169H
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BMP1

NM_006129.5:p.R169H

Associated Papers

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Derrick CJ et al.

Human Molecular Genetics, 2024

The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.

Kuptanon C et al.

Bmc Medical Genetics, 2018

Structural insights into the function of ZRANB3 in replication stress response.

Sebesta M et al.

Nature Communications, 2017

28621305 (PubMed )
Supplement: ncomms15847-s1.pdf
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