signal recognition particle subunit SRP54 isoform 2 [Homo sapiens]

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Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features. [Br J Haematol. 2022]
Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.
McCarthy P, Cotter M, Smith OP. Br J Haematol. 2022 Feb; 196(3):e39-e42. Epub 2021 Sep 22.
Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene. [Pediatr Blood Cancer. 2020]
Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.
Goldberg L, Simon AJ, Rechavi G, Lev A, Barel O, Kunik V, Toren A, Schiby G, Tamary H, Steinberg-Shemer O, et al. Pediatr Blood Cancer. 2020 Jun; 67(6):e28237. Epub 2020 Apr 11.
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome. [Blood. 2018]
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Bellanné-Chantelot C, Schmaltz-Panneau B, Marty C, Fenneteau O, Callebaut I, Clauin S, Docet A, Damaj GL, Leblanc T, Pellier I, et al. Blood. 2018 Sep 20; 132(12):1318-1331. Epub 2018 Jun 18.

RefSeq mRNA
See reference mRNA sequence for the SRP54 gene (NM_001146282.2).
RefSeq protein isoforms
See 7 reference sequence protein isoforms for the SRP54 gene.

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GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
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