Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.R303P
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SMARCD1

NM_003076.5:p.R303P

Associated Papers

Novel Missense Variant in the SMARCD1 Gene as the Cause of Coffin-Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features.

Veazey RA et al.

Prenatal Diagnosis, 2024

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