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Article

Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India.

American journal of medical genetics. Part A - 1 Jul 2025

Chakraborty Soumalya, Singh Amita, Perveen Shama, Chowdhury Madhumita Roy, Ali Salman, Gupta Neerja, Gulati Sheffali, Kabra Madhulika

Abstract excerpt

SMN2 copy number fails to answer variability in the SMA phenotype completely. We aimed to evaluate the copy number variation in NAIP and SMN2: c.859G>C and A-44G variants as disease modifiers and their correlation with the SMA phenotype. Based on the motor milestones achieved, patients with homozygous deletion of SMN1 exon 7 were classified into SMA Types I-IV. The copy numbers of SMN1 exon 8, SMN2, and NAIP were...

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Identifiers

PMID: 40099840
DOI: 10.1002/ajmg.a.64057

Genes

SMN2
NAIP
SMN1

Variants

Provenance

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