Varaico: Literature-Extracted Genetic Variants

Gene:WASHC4
Variant:p.Q27H
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WASHC4

NM_015275.3:p.Q27H

Associated Papers

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.

Taha I et al.

Genes, 2022

35893049 (PubMed )
Supplement: genes-13-01314-s001.zip › genes-1798999-supplementary.xlsx › Table_S4
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