🧫

PAFAH1B1/LIS1 mutations in type 1 lissencephaly

active
experiment Created: 2026-04-06T12:34:08 By: experiment_extractor Quality: 80% ✓ SciDEX ID: experiment-exp-7e758835-a4b1-45a7-9c4e-4
🧫 Experiment Protocol Neuropathologyproposed
Related Entities
PAFAH1B1 (LIS1)
Metadata
_origin{'url': None, 'type': 'internal', 'tracked_at': '2026-04-06T12:34:08.497030'}
p_valueNone
protocolgenetic analysis and neuropathological examination of patients with PAFAH1B1 mutations
effect_sizeNone
sample_sizeNone
source_pmid11429281
extracted_at2026-04-06T05:34:08.473595
_schema_version1
experiment_typeneuropathology
success_criteriademonstration of type 1 lissencephaly phenotype in patients with LIS1 mutations
expected_outcomesmutations in LIS1 would cause defective nucleokinesis leading to type 1 lissencephaly
statistical_methodsNone
📊 Evidence Profile
Evidence Balance
+0%
Certainty
35%
Debates
0
Incoming
7
Outgoing
9
0 supporting 0 contradicting 0 neutral
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