Varaico: Literature-Extracted Genetic Variants

Gene:TGFBRAP1
Variant:p.P587L
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TGFBRAP1

NM_004257.6:p.P587L

Associated Papers

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Lehalle D et al.

American Journal of Medical Genetics. Part A, 2022

35445792 (PubMed )
Supplement: supplement_1.docx
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