Varaico: Literature-Extracted Genetic Variants

Gene:HACD2
Variant:p.V125I
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HACD2

NM_198402.5:p.V125I

Associated Papers

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.

Abdel-Salam GMH et al.

Jci Insight, 2023

37796616 (PubMed )
Supplement: jciinsight-8-170079-s204.pdf
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