Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.P214L
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SBDS

NM_016038.4:p.P214L

Associated Papers

Growth Patterns in Shwachman-Diamond Syndrome: Findings from the North American Shwachman-Diamond Syndrome Registry.

Schwarz L et al.

The Journal of Pediatrics, 2025

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.

Thompson AS et al.

Pediatric Research, 2022

Hematologic complications with age in Shwachman-Diamond syndrome.

Furutani E et al.

Blood Advances, 2022

34758064 (PubMed )
Supplement: advancesADV2021005539-suppl1.pdf
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