Varaico: Literature-Extracted Genetic Variants

Gene:MBTPS2
Variant:p.P243S
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MBTPS2

NM_015884.4:p.P243S

Associated Papers

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.

Migliavacca MP et al.

Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 2023

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